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"contributionDate": { "date": "2026/4/22", "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/CA397836831/MONDO:0018875/009/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397836831/MONDO:0018875/009/ci/CA397836831/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "comments": "Although this variant has been observed in germline cases, to our knowledge, this variant has not been reported in individuals meeting classical LFS or Chompret criteria (PS4 not met; PMIDs: 23334668, 26580448, 29489754, 32000721, Internal lab contributors).", "contributionDate": { "date": "2026/4/22", "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": "CA397836831/MONDO:0018875/009/ci/CA397836831/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397836831/MONDO:0018875/009/el/0/1681", "evidenceItem": [ { "@id": 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"comments": "This variant has 8 somatic occurrences for the same amino acid change in cancerhotspots.org (v2) sufficient to be defined as a mutational hotspot by the Clingen TP53 VCEP (2-9 somatic occurrences, PMID: 30311369) (PM1_Supporting).", "contributionDate": { "date": "2026/4/22", "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": "CA397836831/MONDO:0018875/009/ci/CA397836831/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009/0/1681/1683", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009/1/1682", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009/0/1681", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397836831/MONDO:0018875/009", "metadata": { "created": "2026-04-22T20:17:38.418Z", "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": "Wed, 22 Apr 2026 20:17:38 -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": "54ad9d59-0134-41c7-92ef-3b86fb2181d5", "variant": { "@id": "https://reg.genome.network/allele/CA397836831", "id": "CAR:CA397836831", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000546.6:c.840A>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000546.6(TP53):c.840A>T (p.Arg280Ser)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-21T14:40:31.490Z" } }, "status": { "code": 200, "name": "OK" } }