{
  "data": [
    {
      "@context": "https://erepo.genome.network/evrepo/api/context",
      "@id": "https://cgerepoapi/evrepo/api/summary/classification/fbbb5452-b586-4a7b-9f6b-8416630042bc/doc/sepio/version/2.0.0",
      "assertionMethod": {
        "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1530970787",
        "label": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0",
        "type": "VariantPathogenicityInterpretationGuideline",
        "version": "1.0.0"
      },
      "condition": {
        "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0700268",
        "id": "MONDO:0700268",
        "label": "BRCA1-related cancer predisposition",
        "type": "GeneticCondition"
      },
      "evidenceLine": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1750",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/ei/1/1751",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/6/11",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0086",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                  "id": "SEPIO:0000327",
                  "label": "Benign Supporting"
                },
                "id": "0086",
                "label": "BS1",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1750/1752",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "The highest non-cancer, non-founder population filter allele frequency in gnomAD v2.1 (exomes only, non-cancer subset, read depth ≥20) or gnomAD v3.1 (non-cancer subset, read depth ≥20) is 0.00009711 in the European (non-Finnish) population which is within the ENIGMA BRCA1/2 VCEP threshold (>0.00002 to ≤ 0.0001) for BS1_Supporting (BS1_Supporting met).",
                          "contributionDate": {
                            "date": "2024/6/11",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1750/1752",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/1/1751",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1750",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1588",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/ei/1/1589",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/6/11",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0072",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                  "id": "SEPIO:0000328",
                  "label": "Benign Strong"
                },
                "id": "0072",
                "label": "BS3",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1588/1590",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID: 30209399) (BS3 met). ",
                          "contributionDate": {
                            "date": "2024/6/11",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1588/1590",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/1/1589",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1588",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1771",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/ei/1/1772",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/6/11",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0073",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                  "id": "SEPIO:0000328",
                  "label": "Benign Strong"
                },
                "id": "0073",
                "label": "BP5",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1771/1773",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 4.848E-11 (based on Cosegregation LR=1.36; Pathology LR=0.001; Co-occurrence LR=0.068; Family History LR=0.037; Case-Control LR=1.28E-05), below the threshold for Very strong benign evidence (LR <0.00285) (BP5_Very strong met; PMID: 31131967).\n",
                          "contributionDate": {
                            "date": "2024/6/11",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1771/1773",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/1/1772",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1771",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1747",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/ei/1/1748",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/6/11",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0062",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                  "id": "SEPIO:0000329",
                  "label": "Pathogenic Supporting"
                },
                "id": "0062",
                "label": "PP3",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1747/1749",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "This BRCA1 intronic variant is located outside of the native donor and acceptor 1,2 splice sites, and the SpliceAI predictor score is 0.21, predicting an impact on splicing (score threshold >0.20) (however, this prediction is to strengthen the native acceptor site and therefore PP3 is not applied).",
                          "contributionDate": {
                            "date": "2024/6/11",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1747/1749",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/1/1748",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Not Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1747",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1813",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/ei/1/1814",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2024/6/11",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0065",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                  "id": "SEPIO:0000328",
                  "label": "Benign Strong"
                },
                "id": "0065",
                "label": "BP7",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0700268/092/el/0/1813/1815",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "This is an intronic variant, and mRNA experimental analysis indicates no impact on splicing (PMID: 22505045), considered strong evidence against pathogenicity (BP7_Strong (RNA)). ",
                          "contributionDate": {
                            "date": "2024/6/11",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0700268/092/ci/CA001969/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1813/1815",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/1/1814",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092/0/1813",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA001969/MONDO:0700268/092",
      "metadata": {
        "created": "2024-09-28T04:43:45.922Z",
        "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.",
        "producedAtUTC": "Sat, 28 Sep 2024 04:43:45 -0000",
        "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
        "version": "2.0.0"
      },
      "statementOutcome": {
        "@id": "https://loinc.org/LA6675-8",
        "id": "LN:LA6675-8",
        "label": "Benign"
      },
      "type": "VariantPathogenicityInterpretation",
      "uuid": "fbbb5452-b586-4a7b-9f6b-8416630042bc",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA001969",
        "id": "CAR:CA001969",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_007294.4:c.301+7G>A"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_007294.4(BRCA1):c.301+7G>A"
          }
        ],
        "type": "CAR"
      }
    },
    {
      "@context": "https://erepo.genome.network/evrepo/api/context",
      "@id": "https://cgerepoapi/evrepo/api/summary/classification/fbbb5452-b586-4a7b-9f6b-8416630042bc/doc/sepio/version/1.0.0",
      "assertionMethod": {
        "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1530970787",
        "label": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0",
        "type": "VariantPathogenicityInterpretationGuideline",
        "version": "1.0.0"
      },
      "condition": {
        "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0011450",
        "id": "MONDO:0011450",
        "label": "breast-ovarian cancer, familial, susceptibility to, 1",
        "type": "GeneticCondition"
      },
      "evidenceLine": [
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1750",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/ei/1/1751",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2023/10/10",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0086",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                  "id": "SEPIO:0000327",
                  "label": "Benign Supporting"
                },
                "id": "0086",
                "label": "BS1",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1750/1752",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "The highest non-cancer, non-founder population filter allele frequency in gnomAD v2.1 (exomes only, non-cancer subset, read depth ≥20) or gnomAD v3.1 (non-cancer subset, read depth ≥20) is 0.00009711 in the European (non-Finnish) population which is within the ENIGMA BRCA1/2 VCEP threshold (>0.00002 to ≤ 0.0001) for BS1_Supporting (BS1_Supporting met).",
                          "contributionDate": {
                            "date": "2023/10/10",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1750/1752",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/1/1751",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1750",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1588",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/ei/1/1589",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2023/10/10",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0072",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                  "id": "SEPIO:0000328",
                  "label": "Benign Strong"
                },
                "id": "0072",
                "label": "BS3",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1588/1590",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "Reported by one calibrated study to exhibit protein function similar to benign control variants (PMID: 30209399) (BS3 met). ",
                          "contributionDate": {
                            "date": "2023/10/10",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1588/1590",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/1/1589",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1588",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1771",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/ei/1/1772",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2023/10/10",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0073",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                  "id": "SEPIO:0000328",
                  "label": "Benign Strong"
                },
                "id": "0073",
                "label": "BP5",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1771/1773",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 4.848E-11 (based on Cosegregation LR=1.36; Pathology LR=0.001; Co-occurrence LR=0.068; Family History LR=0.037; Case-Control LR=1.28E-05), below the threshold for Very strong benign evidence (LR <0.00285) (BP5_Very strong met; PMID: 31131967).\n",
                          "contributionDate": {
                            "date": "2023/10/10",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1771/1773",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/1/1772",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1771",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1747",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/ei/1/1748",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2023/10/10",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0062",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                  "id": "SEPIO:0000329",
                  "label": "Pathogenic Supporting"
                },
                "id": "0062",
                "label": "PP3",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1747/1749",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "This BRCA1 intronic variant is located outside of the native donor and acceptor 1,2 splice sites, and the SpliceAI predictor score is 0.21, predicting an impact on splicing (score threshold >0.20) (however, this prediction is to strengthen the native acceptor site and therefore PP3 is not applied).",
                          "contributionDate": {
                            "date": "2023/10/10",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1747/1749",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/1/1748",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Not Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1747",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1813",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/ei/1/1814",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2023/10/10",
                    "description": "Date on which this evidence was provided"
                  },
                  "contributionRole": {
                    "@id": "https://obofoundry.org/sepio/0000156",
                    "id": "SEPIO:0000516",
                    "label": "curator role",
                    "type": "ContributoryRole"
                  },
                  "type": "Contribution"
                }
              ],
              "criterion": {
                "@id": "https://obofoundry.org/sepio/clingen/0065",
                "defaultStrength": {
                  "@id": "https://obofoundry.org/sepio/SEPIO:0000328",
                  "id": "SEPIO:0000328",
                  "label": "Benign Strong"
                },
                "id": "0065",
                "label": "BP7",
                "type": "Criterion"
              },
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001969/MONDO:0011450/092/el/0/1813/1815",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "contribution": [
                        {
                          "agent": {
                            "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "This is an intronic variant, and mRNA experimental analysis indicates no impact on splicing (PMID: 22505045), considered strong evidence against pathogenicity (BP7_Strong (RNA)). ",
                          "contributionDate": {
                            "date": "2023/10/10",
                            "description": "Date on which this evidence was provided"
                          },
                          "contributionRole": {
                            "@id": "https://obofoundry.org/sepio/0000156",
                            "id": "SEPIO:0000516",
                            "label": "curator role",
                            "type": "ContributoryRole"
                          },
                          "type": "Contribution"
                        }
                      ],
                      "id": "CA001969/MONDO:0011450/092/ci/CA001969/MONDO:0011450/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1813/1815",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/1/1814",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092/0/1813",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA001969/MONDO:0011450/092",
      "metadata": {
        "created": "2024-09-28T03:00:42.205Z",
        "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.",
        "producedAtUTC": "Sat, 28 Sep 2024 03:00:41 -0000",
        "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
        "version": "1.0.0"
      },
      "statementOutcome": {
        "@id": "https://loinc.org/LA6675-8",
        "id": "LN:LA6675-8",
        "label": "Benign"
      },
      "type": "VariantPathogenicityInterpretation",
      "uuid": "fbbb5452-b586-4a7b-9f6b-8416630042bc",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA001969",
        "id": "CAR:CA001969",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_007294.4:c.301+7G>A"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_007294.4(BRCA1):c.301+7G>A"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T20:14:37.353Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}