{
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    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1529292791",
      "label": "ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for APC Version 2.1.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "2.1.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0021056",
      "id": "MONDO:0021056",
      "label": "familial adenomatous polyposis 1",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA046422/MONDO:0021056/089/el/0/1594",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA046422/MONDO:0021056/089/ei/1/1595",
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              {
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                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
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                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/19",
                  "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"
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            ],
            "evidenceLine": [
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                          "type": "Agent"
                        },
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                          "date": "2025/5/19",
                          "description": "Date on which this evidence was provided"
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                        "contributionRole": {
                          "@id": "https://obofoundry.org/sepio/0000156",
                          "id": "SEPIO:0000516",
                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA046422/MONDO:0021056/089/ci/CA046422/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/0/1594",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA046422/MONDO:0021056/089/el/0/1735",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA046422/MONDO:0021056/089/ei/1/1736",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                  "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/19",
                  "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/CA046422/MONDO:0021056/089/el/0/1735/1737",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA046422/MONDO:0021056/089/ci/CA046422/MONDO:0021056/089.002",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
                        "comments": "The variant has been reported in 1 proband with a colorectal cancer/polyposis associated phenotype not meeting phenotypic criteria (PS4 not met; Ambry Genetics). ",
                        "contributionDate": {
                          "date": "2025/5/19",
                          "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": "CA046422/MONDO:0021056/089/ci/CA046422/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA046422/MONDO:0021056/089/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA046422/MONDO:0021056/089/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                  "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/5/19",
                  "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/CA046422/MONDO:0021056/089/el/0/1636/1638",
                "evidenceItem": [
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                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
                        "comments": "The total minor allele frequency in gnomAD v2.1.1 (non-cancer) is 0.000004228 (1/236522 alleles), which is lower than the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP (HCCP VCEP) threshold < 0.001% (0.00001) for PM2_Supporting if the allele count is ≤ 1 and therefore meets this criterion (PM2_Supporting). ",
                        "contributionDate": {
                          "date": "2025/5/19",
                          "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": "CA046422/MONDO:0021056/089/ci/CA046422/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089/0/1636",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA046422/MONDO:0021056/089",
    "metadata": {
      "created": "2025-05-19T15:41:53.262Z",
      "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, 19 May 2025 15:41:53 -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": "63090055-24f1-40d1-a5f4-c898fd013b8e",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA046422",
      "id": "CAR:CA046422",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000038.6:c.6905C>G"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000038.6(APC):c.6905C>G (p.Ser2302Ter)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-29T05:13:43.952Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}