{
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    "assertionMethod": {
      "type": "VariantPathogenicityInterpretationGuideline"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0021056",
      "id": "MONDO:0021056",
      "label": "familial adenomatous polyposis 1",
      "type": "GeneticCondition"
    },
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        "evidenceItem": [
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0030",
              "label": "PM2",
              "type": "Criterion"
            },
            "evidenceLine": [
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                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/el/0/1636/1638",
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                    "type": "InfFromBkgrndSciKnow"
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                "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1636/1638",
                "type": "EvidenceLine"
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            ],
            "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
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          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1636",
        "type": "EvidenceLine"
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/el/0/1606",
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                },
                "type": "Contribution"
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            ],
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                "@id": "https://obofoundry.org/sepio/SEPIO:0000329",
                "id": "SEPIO:0000329",
                "label": "Pathogenic Supporting"
              },
              "id": "0032",
              "label": "PS4",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/el/0/1606/1608",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA16024860/MONDO:0021056/089/ci/CA16024860/MONDO:0021056/089.002",
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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 was detected in one proband and two other family members, the combined phenotypic point is 1 (PS4_Supporting).",
                        "contributionDate": {
                          "date": "2023/3/14",
                          "description": "Date on which this evidence was provided"
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                      }
                    ],
                    "id": "CA16024860/MONDO:0021056/089/ci/CA16024860/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1606/1608",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/1/1607",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1606",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/el/0/1828",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/ei/1/1829",
            "contribution": [
              {
                "agent": {
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                "contributionDate": {
                  "date": "2023/3/14",
                  "description": "Date on which this evidence was provided"
                },
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                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
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                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0052",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0052",
              "label": "PS3",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/el/0/1828/1830",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA16024860/MONDO:0021056/089/ci/EV000001529",
                    "contribution": [
                      {
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                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
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                          "label": "curator role",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA16024860/MONDO:0021056/089/ci/EV000001529",
                    "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/24599579",
                    "type": "CuratorInference"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1828/1830",
                "type": "EvidenceLine"
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            ],
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            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1828",
        "type": "EvidenceLine"
      },
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        "evidenceItem": [
          {
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            "contribution": [
              {
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                  "description": "Date on which this evidence was provided"
                },
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                  "@id": "https://obofoundry.org/sepio/0000156",
                  "id": "SEPIO:0000516",
                  "label": "curator role",
                  "type": "ContributoryRole"
                },
                "type": "Contribution"
              }
            ],
            "criterion": {
              "@id": "https://obofoundry.org/sepio/clingen/0020",
              "defaultStrength": {
                "@id": "https://obofoundry.org/sepio/SEPIO:0000330",
                "id": "SEPIO:0000330",
                "label": "Pathogenic Strong"
              },
              "id": "0020",
              "label": "PVS1",
              "type": "Criterion"
            },
            "evidenceLine": [
              {
                "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16024860/MONDO:0021056/089/el/0/1762/1764",
                "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 c.1626G>C variant is the last nucleotide of exon 13. It occurs within the canonical splice donor site of intron 13. It is predicted to cause skipping of biologically-relevant-exon 13, resulting in the loss of amino acids (r.1549_1626del) (p.A517_Q542del) (PVS1_Strong). This prediction is confirmed by RT-PCR analysis (supplanted by PVS1; PMID24599579).",
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                          "date": "2023/3/14",
                          "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": "CA16024860/MONDO:0021056/089/ci/CA16024860/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1762/1764",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/1/1763",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089/0/1762",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA16024860/MONDO:0021056/089",
    "metadata": {
      "created": "2024-09-28T01:26:30.158Z",
      "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": "Sat, 28 Sep 2024 01:26:30 -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": "2f983945-ecba-4893-851f-7c47a672f57c",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA16024860",
      "id": "CAR:CA16024860",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000038.6:c.1626G>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000038.6(APC):c.1626G>C (p.Gln542His)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-02T04:14:33.232Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}