{
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      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1535438831",
      "label": "ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.2.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.2.0"
    },
    "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": "https://erepo.genome.network/evrepo/api/interpretation/CA023861/MONDO:0700269/097/el/0/1798",
        "evidenceItem": [
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                },
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                  "description": "Date on which this evidence was provided"
                },
                "contributionRole": {
                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
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            ],
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023861/MONDO:0700269/097/el/0/1798/1800",
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                          "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                          "type": "Agent"
                        },
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                        "contributionDate": {
                          "date": "2025/8/18",
                          "description": "Date on which this evidence was provided"
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                          "@id": "https://obofoundry.org/sepio/0000156",
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA023861/MONDO:0700269/097/ci/CA023861/MONDO:0700269/097.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/0/1798/1800",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/1/1799",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
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        },
        "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/0/1798",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023861/MONDO:0700269/097/el/0/1594",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023861/MONDO:0700269/097/ei/1/1595",
            "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"
                },
                "contributionDate": {
                  "date": "2025/8/18",
                  "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/CA023861/MONDO:0700269/097/el/0/1594/1596",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA023861/MONDO:0700269/097/ci/CA023861/MONDO:0700269/097.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                          "type": "Agent"
                        },
                        "comments": "This variant is reported to result in aberrant mRNA splicing. RNAseq, minigene and RT-PCR demonstrated that the variant impacts splicing by exon skipping (PMIDs: 20455026, 31143303). Preliminary code strength determined by comparison of results to PVS1 decision tree and assessment of mRNA splicing data (PVS1 (RNA) met). The percent reference (full-length, FL) and aberrant transcripts produced from the variant allele using allele specific quantitative assessment with Capillary electrophoresis was determined to be full-length (0%) / exon skipping (100%). Final code strength determined by the rubric: PVS1 (RNA).",
                        "contributionDate": {
                          "date": "2025/8/18",
                          "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": "CA023861/MONDO:0700269/097/ci/CA023861/MONDO:0700269/097.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023861/MONDO:0700269/097/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA023861/MONDO:0700269/097/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": "2025/8/18",
                  "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/CA023861/MONDO:0700269/097/el/0/1747/1749",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA023861/MONDO:0700269/097/ci/CA023861/MONDO:0700269/097.002",
                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50087_EP169680482377844",
                          "type": "Agent"
                        },
                        "comments": "This BRCA2 intronic variant is located outside of the native donor and acceptor 1,2 splice sites, and has a SpliceAI score of 0.71, predicting an impact on splicing (score threshold ≥0.2) (PP3 not applied because a PVS1 code is met).",
                        "contributionDate": {
                          "date": "2025/8/18",
                          "description": "Date on which this evidence was provided"
                        },
                        "contributionRole": {
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                          "id": "SEPIO:0000516",
                          "label": "curator role",
                          "type": "ContributoryRole"
                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA023861/MONDO:0700269/097/ci/CA023861/MONDO:0700269/097.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097/0/1747",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA023861/MONDO:0700269/097",
    "metadata": {
      "created": "2025-08-18T01:56:22.294Z",
      "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, 18 Aug 2025 01:56:22 -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": "c606ba33-bde7-4122-bd73-7cd241b13573",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA023861",
      "id": "CAR:CA023861",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000059.4:c.631+4A>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000059.4(BRCA2):c.631+4A>G"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-13T20:12:43.521Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}