{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/43eede42-e605-4230-8714-622f958ef2b8/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 1.4.0",
      "type": "VariantPathogenicityInterpretationGuideline",
      "version": "1.4.0"
    },
    "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/CA382529260/MONDO:0700270/020/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382529260/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": "2026/4/10",
                  "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/CA382529260/MONDO:0700270/020/el/0/1747/1749",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA382529260/MONDO:0700270/020/ci/CA382529260/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 0.836, which is above the threshold of 0.733, evidence that correlates with impact to ATM function (PP3). \n",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "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": "CA382529260/MONDO:0700270/020/ci/CA382529260/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382529260/MONDO:0700270/020/el/0/1636",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382529260/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": "2026/4/10",
                  "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/CA382529260/MONDO:0700270/020/el/0/1636/1638",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA382529260/MONDO:0700270/020/ci/CA382529260/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 filtering allele frequency (the upper threshold of the 95% CI of 5/1179886) of the c.743G>T variant in ATM is 0.000001240 for European (non-Finnish) chromosomes by gnomAD v4.1.0, which is lower than the HBOP VCEP threshold (≤0.00001) for PM2_Supporting, and therefore meets this criterion.\n",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "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": "CA382529260/MONDO:0700270/020/ci/CA382529260/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/0/1636/1638",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/1/1637",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/0/1636",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382529260/MONDO:0700270/020/el/0/1651",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382529260/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": "2026/4/10",
                  "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/CA382529260/MONDO:0700270/020/el/0/1651/1653",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA382529260/MONDO:0700270/020/ci/CA382529260/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 2 unrelated individuals with Ataxia-Telangiectasia (PMID: 26896183, 30713931, 24120321, PM3_Strong).\n",
                        "contributionDate": {
                          "date": "2026/4/10",
                          "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": "CA382529260/MONDO:0700270/020/ci/CA382529260/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/0/1651/1653",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/1/1652",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020/0/1651",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA382529260/MONDO:0700270/020",
    "metadata": {
      "created": "2026-04-10T19:19:31.003Z",
      "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": "Fri, 10 Apr 2026 19:19:30 -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": "43eede42-e605-4230-8714-622f958ef2b8",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA382529260",
      "id": "CAR:CA382529260",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000051.4:c.743G>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000051.4(ATM):c.743G>T (p.Arg248Leu)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-11-04T05:03:29.654Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}