{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/bdbeeb61-e719-46cf-a6a4-1675057be466/doc/sepio/version/1.0.0",
    "assertionMethod": {
      "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/639508985",
      "label": "ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.3.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.3.0"
    },
    "condition": {
      "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0700270",
      "id": "MONDO:0700270",
      "label": "ATM-related cancer predisposition",
      "type": "GeneticCondition"
    },
    "evidenceLine": [
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382516339/MONDO:0700270/020/el/0/1651",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382516339/MONDO:0700270/020/ei/1/1652",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834",
                  "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/7/10",
                  "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/CA382516339/MONDO:0700270/020/el/0/1651/1653",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA382516339/MONDO:0700270/020/ci/CA382516339/MONDO:0700270/020.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834",
                          "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                          "type": "Agent"
                        },
                        "comments": "This Variant has been detected in at least 2 individuals with  Ataxia-Telangiectasia.\n CASE 1-Heterozygous with the pathogenic variant c.217_218delGA -2 points (PMID:26896183)(Jackson et al.,)\nCASE 2- PMID: 22649200 –Phenotype confident –c.217_218delGA Phase Unknown –2 points\nTotal-4 points\n\n",
                        "contributionDate": {
                          "date": "2025/7/10",
                          "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": "CA382516339/MONDO:0700270/020/ci/CA382516339/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/0/1651/1653",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/1/1652",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/0/1651",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382516339/MONDO:0700270/020/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382516339/MONDO:0700270/020/ei/1/1637",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834",
                  "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/7/10",
                  "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/CA382516339/MONDO:0700270/020/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA382516339/MONDO:0700270/020/ci/CA382516339/MONDO:0700270/020.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834",
                          "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                          "type": "Agent"
                        },
                        "comments": "Absent from controls",
                        "contributionDate": {
                          "date": "2025/7/10",
                          "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": "CA382516339/MONDO:0700270/020/ci/CA382516339/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382516339/MONDO:0700270/020/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382516339/MONDO:0700270/020/ei/1/1748",
            "contribution": [
              {
                "agent": {
                  "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834",
                  "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                  "type": "Agent"
                },
                "contributionDate": {
                  "date": "2025/7/10",
                  "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/CA382516339/MONDO:0700270/020/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA382516339/MONDO:0700270/020/ci/CA382516339/MONDO:0700270/020.002",
                    "contribution": [
                      {
                        "agent": {
                          "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834",
                          "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.94, which is above the threshold of ≥.733, evidence that correlates with impact to ATM function\n",
                        "contributionDate": {
                          "date": "2025/7/10",
                          "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": "CA382516339/MONDO:0700270/020/ci/CA382516339/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020/0/1747",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA382516339/MONDO:0700270/020",
    "metadata": {
      "created": "2025-07-10T20:28:43.063Z",
      "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": "Thu, 10 Jul 2025 20:28:42 -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": "bdbeeb61-e719-46cf-a6a4-1675057be466",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA382516339",
      "id": "CAR:CA382516339",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000051.4:c.8300T>C"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000051.4(ATM):c.8300T>C (p.Leu2767Pro)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-03T07:47:30.318Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}