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    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
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      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0700268",
      "id": "MONDO:0700268",
      "label": "BRCA1-related cancer predisposition",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/el/0/1636",
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              "@id": "https://obofoundry.org/sepio/clingen/0030",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
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                    ],
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                "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1636/1638",
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            ],
            "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1636",
        "type": "EvidenceLine"
      },
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        "evidenceItem": [
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                  "description": "Date on which this evidence was provided"
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                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0052",
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0052",
              "label": "PS3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/el/0/1828/1830",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA003696/MONDO:0700268/092/ci/CA003696/MONDO:0700268/092.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                          "type": "Agent"
                        },
                        "comments": "Reported by three calibrated studies with discordant results. Functional effect similar to pathogenic control variants (PMIDs:30209399, 38709234) and between what was observed for benign and pathogenic control variants (PMID:30257991), however due to the number of concordant assays and only one discrepancy, the VCEP decided to apply PS3 (PS3 met).",
                        "contributionDate": {
                          "date": "2026/9/21",
                          "description": "Date on which this evidence was provided"
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA003696/MONDO:0700268/092/ci/CA003696/MONDO:0700268/092.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1828/1830",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/1/1829",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1828",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/el/0/1831",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/ei/1/1832",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                  "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                  "type": "Agent"
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                  "date": "2026/9/21",
                  "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/0018",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000216",
                "id": "SEPIO:0000216",
                "label": "Pathogenic Moderate"
              },
              "id": "0018",
              "label": "PP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/el/0/1831/1833",
                "evidenceItem": [
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                    "contribution": [
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                        "comments": "Multifactorial likelihood ratio analysis using clinically calibrated data produced a combined LR for this variant of 8.42 (based on Cosegregation LR=14.79; Pathology LR=0.09; Co-occurrence LR=1.07; Family History LR=5.98), within the thresholds for moderate evidence towards pathogenicity (LR >4.3 & ≤18.7) (PP4_Moderate met; PMID: 31131967, Internal lab contributor). ",
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                    ],
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                ],
                "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1831/1833",
                "type": "EvidenceLine"
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            ],
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              "label": "Met"
            },
            "type": "CriterionAssessment"
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        ],
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        },
        "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1831",
        "type": "EvidenceLine"
      },
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/ei/1/1685",
            "contribution": [
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                  "date": "2026/9/21",
                  "description": "Date on which this evidence was provided"
                },
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                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0080",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000327",
                "id": "SEPIO:0000327",
                "label": "Benign Supporting"
              },
              "id": "0080",
              "label": "BP4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA003696/MONDO:0700268/092/el/0/1684/1686",
                "evidenceItem": [
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                          "type": "Agent"
                        },
                        "comments": "This BRCA1 missense variant is within a key functional domain and the computational predictor BayesDel (noAF) gives a score of 0.14, which is below the recommended threshold of 0.15 for predicting no impact on BRCA1 via protein change. A SpliceAI score of 0 predicts no impact on splicing (score threshold <0.10) (BP4 met).",
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                          "date": "2026/9/21",
                          "description": "Date on which this evidence was provided"
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA003696/MONDO:0700268/092/ci/CA003696/MONDO:0700268/092.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1684/1686",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092/0/1684",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA003696/MONDO:0700268/092",
    "metadata": {
      "created": "2026-10-15T19:01:15.488Z",
      "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": "Thu, 15 Oct 2026 19:01:15 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26332-9",
      "id": "LN:LA26332-9",
      "label": "Likely Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "97edbb9e-9abc-4eb4-acb8-8c2d6be224e2",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA003696",
      "id": "CAR:CA003696",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_007294.4:c.5522G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-05T01:14:08.345Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}