{
  "data": [
    {
      "@context": "https://erepo.genome.network/evrepo/api/context",
      "@id": "https://cgerepoapi/evrepo/api/summary/classification/c60f30dc-7369-4d49-9cea-6dab70fe4c4f/doc/sepio/version/1.0.0",
      "assertionMethod": {
        "type": "VariantPathogenicityInterpretationGuideline"
      },
      "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/CA10591040/MONDO:0700268/092/el/0/1747",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/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": "2025/5/23",
                    "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"
                }
              ],
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/el/0/1747/1749",
                  "evidenceItem": [
                    {
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                            "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                            "type": "Agent"
                          },
                          "comments": "This BRCA1 missense variant is within a key functional domain and the computational predictor BayesDel (noAF) gives a score of 0.36, above the recommended threshold of 0.28 for prediction of impact on BRCA1 function via protein change. A SpliceAI score of 0.0 predicts no impact on splicing (score threshold ≤0.1) (PP3 met).\n",
                          "contributionDate": {
                            "date": "2025/5/23",
                            "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": "CA10591040/MONDO:0700268/092/ci/CA10591040/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/0/1747/1749",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/1/1748",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/0/1747",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/el/0/1636",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/ei/1/1637",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2025/5/23",
                    "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"
                }
              ],
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/el/0/1636/1638",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA10591040/MONDO:0700268/092/ci/CA10591040/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 variant is absent from gnomAD v2.1 (exomes only, non-cancer subset, read depth ≥25) and gnomAD v3.1 (non-cancer subset, read depth ≥25) (PM2_Supporting met).",
                          "contributionDate": {
                            "date": "2025/5/23",
                            "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": "CA10591040/MONDO:0700268/092/ci/CA10591040/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/0/1636/1638",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/1/1637",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/0/1636",
          "type": "EvidenceLine"
        },
        {
          "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/el/0/1828",
          "evidenceItem": [
            {
              "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/ei/1/1829",
              "contribution": [
                {
                  "agent": {
                    "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                    "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                    "type": "Agent"
                  },
                  "contributionDate": {
                    "date": "2025/5/23",
                    "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"
                }
              ],
              "evidenceLine": [
                {
                  "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10591040/MONDO:0700268/092/el/0/1828/1830",
                  "evidenceItem": [
                    {
                      "@id": "CG-PCER:curatorInference/CA10591040/MONDO:0700268/092/ci/CA10591040/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 two calibrated studies to affect protein function similar to pathogenic control variants (PMIDs:30209399, 38709234) (PS3 met).\n",
                          "contributionDate": {
                            "date": "2025/5/23",
                            "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": "CA10591040/MONDO:0700268/092/ci/CA10591040/MONDO:0700268/092.002",
                      "type": "InfFromBkgrndSciKnow"
                    }
                  ],
                  "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/0/1828/1830",
                  "type": "EvidenceLine"
                }
              ],
              "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/1/1829",
              "statementOutcome": {
                "@id": "SEPIO:0000224",
                "label": "Met"
              },
              "type": "CriterionAssessment"
            }
          ],
          "evidenceStrength": {
            "@id": "https://obofoundry.org/sepio"
          },
          "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092/0/1828",
          "type": "EvidenceLine"
        }
      ],
      "id": "CG-PCER-VARINT:CA10591040/MONDO:0700268/092",
      "metadata": {
        "created": "2025-05-30T21:31:36.648Z",
        "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": "Fri, 30 May 2025 21:31:36 -0000",
        "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
        "version": "1.0.0"
      },
      "statementOutcome": {
        "@id": "https://loinc.org/LA26332-9",
        "id": "LN:LA26332-9",
        "label": "Likely Pathogenic"
      },
      "type": "VariantPathogenicityInterpretation",
      "uuid": "c60f30dc-7369-4d49-9cea-6dab70fe4c4f",
      "variant": {
        "@id": "https://reg.genome.network/allele/CA10591040",
        "id": "CAR:CA10591040",
        "relatedContextualAllele": [
          {
            "alleleName": [
              {
                "name": "NM_007294.4:c.5257A>G"
              }
            ],
            "preferred": true
          }
        ],
        "relatedIdentifier": [
          {
            "label": "NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly)"
          }
        ],
        "type": "CAR"
      }
    }
  ],
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T20:10:48.628Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}