{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/b6e085c9-0306-45c6-bca2-100ed3cf54e6/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 1.2.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.2.0"
    },
    "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/CA001039/MONDO:0700268/092/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA001039/MONDO:0700268/092/ei/1/1778",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                  "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/7/15",
                  "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/CA001039/MONDO:0700268/092/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA001039/MONDO:0700268/092/ci/CA001039/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 Total GrpMax filtering allele frequency (the lower threshold of the 95% CI) in gnomAD v4.1 is 0.001942 in the East Asian genetic ancestry group (based on 103/44742 alleles) which is above the ENIGMA BRCA1/2 VCEP threshold (>0.001) for BA1 (BA1 met).\n",
                        "contributionDate": {
                          "date": "2026/7/15",
                          "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": "CA001039/MONDO:0700268/092/ci/CA001039/MONDO:0700268/092.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA001039/MONDO:0700268/092/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA001039/MONDO:0700268/092/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA001039/MONDO:0700268/092/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA001039/MONDO:0700268/092",
    "metadata": {
      "created": "2026-07-15T07:24:08.627Z",
      "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": "Wed, 15 Jul 2026 07:24:08 -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": "b6e085c9-0306-45c6-bca2-100ed3cf54e6",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA001039",
      "id": "CAR:CA001039",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_007294.4:c.154C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T11:01:09.000Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}