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"evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA382525484/MONDO:0700270/020/ci/CA382525484/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 c.467G>A (p.Trp156Ter) variant in ATM gene is a nonsense variant observed to cause premature truncation of the protein in exon 5/63 and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism.", "contributionDate": { "date": "2025/10/20", "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": "CA382525484/MONDO:0700270/020/ci/CA382525484/MONDO:0700270/020.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020/0/1594/1596", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020/1/1595", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020/0/1594", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382525484/MONDO:0700270/020/el/0/1774", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA382525484/MONDO:0700270/020/ei/1/1775", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50039_EP16468073603834", "id": "CG-PCER-AGENT:CG_50039_EP16468073603834", "type": "Agent" }, "contributionDate": { "date": "2025/10/20", "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/CA382525484/MONDO:0700270/020/el/0/1774/1776", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA382525484/MONDO:0700270/020/ci/CA382525484/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 c.467G>A (p.Trp156Ter) variant alteration results in a termination codon upstream of the most C-terminus pathogenic alteration (ATM p.Arg3047*), as classified by the HBOP VCEP, and is expected to be deleterious.", "contributionDate": { "date": "2025/10/20", "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": "CA382525484/MONDO:0700270/020/ci/CA382525484/MONDO:0700270/020.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020/0/1774/1776", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020/1/1775", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020/0/1774", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA382525484/MONDO:0700270/020", "metadata": { "created": "2025-10-20T21:31:38.387Z", "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, 20 Oct 2025 21:31:38 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "1d59175c-fb11-4dcb-9edd-ffdccb9bd5b0", "variant": { "@id": "https://reg.genome.network/allele/CA382525484", "id": "CAR:CA382525484", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000051.4:c.467G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000051.4(ATM):c.467G>A (p.Trp156Ter)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-05T01:47:42.441Z" } }, "status": { "code": 200, "name": "OK" } }