{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/61d9fc98-9d3c-4239-88a3-9dfad2491b5e/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/135637581", "label": "ClinGen TP53 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for TP53 Version 2.4.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.4.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018875", "id": "MONDO:0018875", "label": "Li-Fraumeni syndrome", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397839907/MONDO:0018875/009/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397839907/MONDO:0018875/009/ei/1/1616", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "contributionDate": { "date": "2026/2/10", "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/CA397839907/MONDO:0018875/009/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397839907/MONDO:0018875/009/ci/CA397839907/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": "This variant does not reside within a region of TP53 that is defined as a mutational hotspot by the ClinGen TP53 VCEP (PM1 not met).\n", "contributionDate": { "date": "2026/2/10", "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": "CA397839907/MONDO:0018875/009/ci/CA397839907/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397839907/MONDO:0018875/009/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397839907/MONDO:0018875/009/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397839907/MONDO:0018875/009/0/1615", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397839907/MONDO:0018875/009/el/0/1780", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397839907/MONDO:0018875/009/ei/1/1781", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "contributionDate": { "date": "2026/2/10", "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/CA397839907/MONDO:0018875/009/el/0/1780/1782", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397839907/MONDO:0018875/009/ci/CA397839907/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": "3 different missense variants (p.Pro219Ala, p.Pro219Thr, p.Pro219Ser) in the same codon have been reported (ClinVar Variation IDs: 2850523, 2758381, 245673). 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We expect it to differ significantly from the final schema.", "producedAtUTC": "Tue, 10 Feb 2026 17:24:22 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26333-7", "id": "LN:LA26333-7", "label": "Uncertain Significance" }, "type": "VariantPathogenicityInterpretation", "uuid": "61d9fc98-9d3c-4239-88a3-9dfad2491b5e", "variant": { "@id": "https://reg.genome.network/allele/CA397839907", "id": "CAR:CA397839907", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000546.6:c.656C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000546.6(TP53):c.656C>T (p.Pro219Leu)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-08-04T16:48:43.204Z" } }, "status": { "code": 200, "name": "OK" } }