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      "label": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0700269",
      "id": "MONDO:0700269",
      "label": "BRCA2-related cancer predisposition",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
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                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                        "comments": "This BRCA2 missense variant has a SpliceAI score of 0.59, predicting an impact on splicing (score threshold >0.20) (PP3 not applied because a PVS1 code is met).",
                        "contributionDate": {
                          "date": "2026/1/5",
                          "description": "Date on which this evidence was provided"
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                          "label": "curator role",
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                    ],
                    "id": "CA10576059/MONDO:0700269/097/ci/CA10576059/MONDO:0700269/097.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/0/1747/1749",
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            ],
            "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
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        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/0/1747",
        "type": "EvidenceLine"
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            "contribution": [
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                  "@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": "2026/1/5",
                  "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/CA10576059/MONDO:0700269/097/el/0/1636/1638",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA10576059/MONDO:0700269/097/ci/CA10576059/MONDO:0700269/097.002",
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                          "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": "2026/1/5",
                          "description": "Date on which this evidence was provided"
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                      }
                    ],
                    "id": "CA10576059/MONDO:0700269/097/ci/CA10576059/MONDO:0700269/097.002",
                    "type": "InfFromBkgrndSciKnow"
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                ],
                "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10576059/MONDO:0700269/097/el/0/1762",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA10576059/MONDO:0700269/097/ei/1/1763",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50087_EP169680482377844",
                  "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2026/1/5",
                  "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/CA10576059/MONDO:0700269/097/el/0/1762/1764",
                "evidenceItem": [
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                        "comments": "This variant is reported to result in aberrant mRNA splicing. RT-PCR demonstrated that the variant impacts splicing by use of a cryptic site 4 nt upstream (PMID: 29750258). The percent reference and aberrant transcripts produced from the variant allele is not stated. A minigene assay demonstrated the variant allele produced 7.7 % reference (full-length, FL) and 89 % aberrant transcript using an allele specific quantitative assessment with Capillary electrophoresis (PMID: 30883759). RT-PCRseq from an Internal lab contributor has also demonstrated that a small number of normally spliced reads contained the variant allele (Ambry internal data). Appropriate code strength determined by comparison of results to PVS1 decision tree and VCEP discussion: PVS1_Strong (RNA).",
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                          "date": "2026/1/5",
                          "description": "Date on which this evidence was provided"
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                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA10576059/MONDO:0700269/097/ci/CA10576059/MONDO:0700269/097.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/0/1762/1764",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/1/1763",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
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        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097/0/1762",
        "type": "EvidenceLine"
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    ],
    "id": "CG-PCER-VARINT:CA10576059/MONDO:0700269/097",
    "metadata": {
      "created": "2026-01-05T01:39:25.088Z",
      "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": "Mon, 05 Jan 2026 01:39:24 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA26333-7",
      "id": "LN:LA26333-7",
      "label": "Uncertain Significance"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "acb51610-4f1c-44e1-a593-129bd48b0e1e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA10576059",
      "id": "CAR:CA10576059",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000059.4:c.67G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000059.4(BRCA2):c.67G>A (p.Asp23Asn)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T03:27:35.725Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}