{
  "data": {
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    "@id": "https://cgerepoapi/evrepo/api/summary/classification/f7796bf0-f655-4344-947a-f1e08e323df1/doc/sepio/version/1.0.0",
    "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/CA009682/MONDO:0021056/089/el/0/1636",
        "evidenceItem": [
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            "contribution": [
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                  "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/CA009682/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 0.000004 (1/250082 alleles), which is lower than the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP (HCCP VCEP) threshold of < 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": "CA009682/MONDO:0021056/089/ci/CA009682/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA009682/MONDO:0021056/089/el/0/1606",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA009682/MONDO:0021056/089/ei/1/1607",
            "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/CA009682/MONDO:0021056/089/el/0/1606/1608",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA009682/MONDO:0021056/089/ci/CA009682/MONDO:0021056/089.002",
                    "contribution": [
                      {
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
                        "comments": "This variant has been reported in 1 proband meeting phenotypic criteria, resulting in a total phenotype score of 1 point (PS4_Supporting [PMID: 17135276]). The variant is reported in two additional probands with a colorectal cancer/polyposis associated phenotype not meeting phenotypic criteria (PMID: 15108288 and LOVD individual ID 00014662). ",
                        "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": "CA009682/MONDO:0021056/089/ci/CA009682/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/0/1606/1608",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/1/1607",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/0/1606",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA009682/MONDO:0021056/089/el/0/1594",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA009682/MONDO:0021056/089/ei/1/1595",
            "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/CA009682/MONDO:0021056/089/el/0/1594/1596",
                "evidenceItem": [
                  {
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                    "contribution": [
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                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
                        "comments": "The NM_000038.6(APC):c.4669_4670del (p.Ile1557Ter) variant in APC is a nonsense variant located between codon 49 and 2645 and predicted to cause a premature stop codon in exon 16 in a gene in which loss-of-function is an established disease mechanism (PVS1). ",
                        "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": "CA009682/MONDO:0021056/089/ci/CA009682/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/0/1594/1596",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/1/1595",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089/0/1594",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA009682/MONDO:0021056/089",
    "metadata": {
      "created": "2025-05-19T18:34:51.098Z",
      "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 18:34:50 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6668-3",
      "id": "LN:LA6668-3",
      "label": "Pathogenic"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "f7796bf0-f655-4344-947a-f1e08e323df1",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA009682",
      "id": "CAR:CA009682",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000038.6:c.4669_4670del"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T17:07:46.682Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}