{
  "data": {
    "@context": "https://erepo.genome.network/evrepo/api/context",
    "@id": "https://cgerepoapi/evrepo/api/summary/classification/c43104b1-238b-496b-b4d2-7c03e1318375/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/CA157068/MONDO:0700270/020/el/0/1747",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA157068/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/CA157068/MONDO:0700270/020/el/0/1747/1749",
                "evidenceItem": [
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                    "contribution": [
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                          "id": "CG-PCER-AGENT:CG_50039_EP16468073603834",
                          "type": "Agent"
                        },
                        "comments": "The computational predictor REVEL gives a score of 0.379, which is neither above nor below the thresholds predicting a damaging or benign impact on ATM function (PP3, BP4 not met). \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": "CA157068/MONDO:0700270/020/ci/CA157068/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/0/1747/1749",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/1/1748",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/0/1747",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA157068/MONDO:0700270/020/el/0/1684",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA157068/MONDO:0700270/020/ei/1/1685",
            "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/CA157068/MONDO:0700270/020/el/0/1684/1686",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA157068/MONDO:0700270/020/ci/CA157068/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 0.379, which is neither above nor below the thresholds predicting a damaging or benign impact on ATM function (PP3, BP4 not met). \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": "CA157068/MONDO:0700270/020/ci/CA157068/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/0/1684/1686",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/1/1685",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Not Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/0/1684",
        "type": "EvidenceLine"
      },
      {
        "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA157068/MONDO:0700270/020/el/0/1777",
        "evidenceItem": [
          {
            "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA157068/MONDO:0700270/020/ei/1/1778",
            "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/CA157068/MONDO:0700270/020/el/0/1777/1779",
                "evidenceItem": [
                  {
                    "@id": "CG-PCER:curatorInference/CA157068/MONDO:0700270/020/ci/CA157068/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 GnomAD Filtering Allele Frequency is 0.009580, which is higher than the HBOP VCEP threshold (>0.5%) for BA1, meeting this criterion (BA1).\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": "CA157068/MONDO:0700270/020/ci/CA157068/MONDO:0700270/020.002",
                    "type": "InfFromBkgrndSciKnow"
                  }
                ],
                "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/0/1777/1779",
                "type": "EvidenceLine"
              }
            ],
            "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/1/1778",
            "statementOutcome": {
              "@id": "SEPIO:0000224",
              "label": "Met"
            },
            "type": "CriterionAssessment"
          }
        ],
        "evidenceStrength": {
          "@id": "https://obofoundry.org/sepio"
        },
        "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020/0/1777",
        "type": "EvidenceLine"
      }
    ],
    "id": "CG-PCER-VARINT:CA157068/MONDO:0700270/020",
    "metadata": {
      "created": "2026-04-10T19:19:24.353Z",
      "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 19:19:24 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "1.0.0"
    },
    "statementOutcome": {
      "@id": "https://loinc.org/LA6675-8",
      "id": "LN:LA6675-8",
      "label": "Benign"
    },
    "type": "VariantPathogenicityInterpretation",
    "uuid": "c43104b1-238b-496b-b4d2-7c03e1318375",
    "variant": {
      "@id": "https://reg.genome.network/allele/CA157068",
      "id": "CAR:CA157068",
      "relatedContextualAllele": [
        {
          "alleleName": [
            {
              "name": "NM_000051.4:c.1810C>T"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-07-30T17:11:19.561Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
  }
}