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"CG-PCER:curatorInference/CA397844510/MONDO:0018875/009/ci/CA397844510/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": "Six different missense variants affecting the same codon have been reported (c.337T>C, p.Phe113Leu; c.337T>G, p.Phe113Val; c.338T>C, p.Phe113Ser; c.338T>G, p.Phe113Cys; c.339C>A, p.Phe113Leu; c.339C>G, p.Phe113Leu) (ClinVar Variation IDs: 3634432, 141302, 823709, 634690, 2125367, 2702402). 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Additionally, SpliceAI predicts that the variant has no impact on splicing (score threshold ≤ 0.10) (PP3 and BP4 not met). ", "contributionDate": { "date": "2026/9/22", "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": "CA397844510/MONDO:0018875/009/ci/CA397844510/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1747/1749", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/1/1748", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1747", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1636", "evidenceItem": [ { "@id": 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"evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1636", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1765", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/ei/1/1766", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "contributionDate": { "date": "2026/9/22", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0050", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": 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"ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0051", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0051", "label": "PS2", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397844510/MONDO:0018875/009/ci/CA397844510/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" }, "contributionDate": { "date": "2026/9/22", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": 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non-functional transactivation and loss of growth suppression activity by the majority of available assays indicating that this variant impacts protein function (PS3; PMIDs: 12826609, 30224644, 29979965, 39774325).", "contributionDate": { "date": "2026/9/22", "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": "CA397844510/MONDO:0018875/009/ci/CA397844510/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1828", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "contributionDate": { "date": "2026/9/22", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0053", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000330", "id": "SEPIO:0000330", "label": "Pathogenic Strong" }, "id": "0053", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397844510/MONDO:0018875/009/ci/CA397844510/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 received a total of 0.5 points in one proband (PS4 not met; Internal lab contributor).", "contributionDate": { "date": "2026/9/22", "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": "CA397844510/MONDO:0018875/009/ci/CA397844510/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1735", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "contributionDate": { "date": "2026/9/22", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0080", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0080", "label": "BP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397844510/MONDO:0018875/009/ci/CA397844510/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": "The results from the computational predictors BayesDel and AlignGVGD do not agree, providing no evidence that correlates with a damaging or benign impact on TP53 function via protein change. Additionally, SpliceAI predicts that the variant has no impact on splicing (score threshold ≤ 0.10) (PP3 and BP4 not met). ", "contributionDate": { "date": "2026/9/22", "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": "CA397844510/MONDO:0018875/009/ci/CA397844510/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50013_EP157989641412139", "id": "CG-PCER-AGENT:CG_50013_EP157989641412139", "type": "Agent" }, "contributionDate": { "date": "2026/9/22", "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" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0087", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000325", "id": "SEPIO:0000325", "label": "Benign Stand Alone" }, "id": "0087", "label": "BA1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA397844510/MONDO:0018875/009/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA397844510/MONDO:0018875/009/ci/CA397844510/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" }, "contributionDate": { "date": "2026/9/22", "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": "CA397844510/MONDO:0018875/009/ci/CA397844510/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009/0/1777", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA397844510/MONDO:0018875/009", "metadata": { "created": "2026-10-15T19:02:40.251Z", "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": "Thu, 15 Oct 2026 19:02:40 -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": "454d1e83-d15f-4d8a-b020-b002fddfb132", "variant": { "@id": "https://reg.genome.network/allele/CA397844510", "id": "CAR:CA397844510", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000546.6:c.337T>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000546.6(TP53):c.337T>A (p.Phe113Ile)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-22T22:23:15.288Z" } }, "status": { "code": 200, "name": "OK" } }