{
  "data": {
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      "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": [
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        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/MONDO:0021056/089/el/0/1636",
        "evidenceItem": [
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            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/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/CA16022246/MONDO:0021056/089/el/0/1636/1638",
                "evidenceItem": [
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                    "@id": "CG-PCER:curatorInference/CA16022246/MONDO:0021056/089/ci/CA16022246/MONDO:0021056/089.002",
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                          "type": "Agent"
                        },
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                        "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",
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                        },
                        "type": "Contribution"
                      }
                    ],
                    "id": "CA16022246/MONDO:0021056/089/ci/CA16022246/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/MONDO:0021056/089/el/0/1735",
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                  "@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/CA16022246/MONDO:0021056/089/el/0/1735/1737",
                "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": "This variant has been reported in 1 proband meeting phenotypic criteria, resulting in a phenotype score of 0.5 points (Invitae, internal data) (PS4 not applicable). ",
                        "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": "CA16022246/MONDO:0021056/089/ci/CA16022246/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1735/1737",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/1/1736",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1735",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/MONDO:0021056/089/el/0/1762",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/MONDO:0021056/089/ei/1/1763",
            "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/CA16022246/MONDO:0021056/089/el/0/1762/1764",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA16022246/MONDO:0021056/089/ci/CA16022246/MONDO:0021056/089.002",
                    "contribution": [
                      {
                        "agent": {
                          "@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.422G>C (p.Arg141Thr) variant in APC is a G to non-G change at the last nucleotide of exon 4. It is predicted to cause skipping of exon 4, resulting in a frameshift in a gene in which loss-of-function is an established disease mechanism (PVS1_Strong). ",
                        "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": "CA16022246/MONDO:0021056/089/ci/CA16022246/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1762/1764",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/1/1763",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1762",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/MONDO:0021056/089/el/0/1702",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA16022246/MONDO:0021056/089/ei/1/1703",
            "contribution": [
              {
                "agent": {
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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/CA16022246/MONDO:0021056/089/el/0/1702/1704",
                "evidenceItem": [
                  {
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                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50099_EP167879163953841",
                          "id": "CG-PCER-AGENT:CG_50099_EP167879163953841",
                          "type": "Agent"
                        },
                        "comments": "Moreover, the variant has been observed in heterozygous state in two individuals without a colorectal cancer/polyposis associated phenotype, worth 1 healthy individual point in total (BS2_Supporting not met; [Ambry Genetics, internal data]). ",
                        "contributionDate": {
                          "date": "2025/5/19",
                          "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"
                      }
                    ],
                    "id": "CA16022246/MONDO:0021056/089/ci/CA16022246/MONDO:0021056/089.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1702/1704",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/1/1703",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089/0/1702",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA16022246/MONDO:0021056/089",
    "metadata": {
      "created": "2025-05-19T18:41:51.994Z",
      "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 18:41:51 -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": "dc4d6a80-eb3a-4ce3-a2a5-bea49c46ee55",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA16022246",
      "id": "CAR:CA16022246",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000038.6:c.422G>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000038.6(APC):c.422G>C (p.Arg141Thr)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-09T14:18:27.976Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}