{ "data": { "@context": "https://genboree.org/evrepo/api/context", "@id": "https://genboree.org/evrepo/api/summary/classification/fc7cc0ba-f84e-46c8-acb3-ef170d24b394/doc/sepio/version/2.0.0", "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 2.3.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.3.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018875", "id": "MONDO:0018875", "label": "Li-Fraumeni syndrome", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1636", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1637", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "This variant has an allele frequency of 0.0000006203 (1/1612196 alleles) across gnomAD v4.1.0 which is lower than the Clingen TP53 VCEP threshold (<0.00003) for PM2_Supporting and has no more than one allele per non-bottleneck subpopulation (PM2_Supporting).", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1636", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1615", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1616", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "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).", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1615/1617", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1616", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1615", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1690", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1691", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1690/1692", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "Computational predictor scores (BayesDel = 0.3466; Align GVGD = Class 65) are above recommended thresholds (BayesDel > 0.16 and an Align GVGD Class of 65), evidence that correlates with impact to TP53 via protein change (PP3_Moderate).", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1690/1692", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1691", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1690", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1684", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1685", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1684", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1597", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1598", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1597/1599", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1597/1599", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1598", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1597", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1777", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1778", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "Absent in gnomAD v2.1.1 (non-cancer)", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1777", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1765", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1766", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1765/1767", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1765/1767", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1766", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1765", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1663", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1664", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1663/1665", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1663/1665", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1664", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1663", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1828", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1829", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1828/1830", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1828/1830", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1829", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1828", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1672", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1673", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1672/1674", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1672/1674", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1673", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1672", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1804", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1805", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1804/1806", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "Absent in gnomAD v2.1.1 (non-cancer)", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1804", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1768", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1769", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1768/1770", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1768/1770", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1769", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1768", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1588", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1589", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1588/1590", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/EV000001124", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "noLOF", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/EV000001124", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/29979965", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/EV000000838", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "Functional", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/EV000000838", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/12826609", "type": "CuratorInference" }, { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/EV000000837", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "noLOF/noDNE", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/EV000000837", "traceableAuthorStatement": "https://www.ncbi.nlm.nih.gov/pubmed/30224644", "type": "CuratorInference" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1588/1590", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1589", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1588", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1711", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1712", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1711/1713", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "comments": "This variant has been observed in 2-3 heterozygous unrelated females from the same data source with no personal history of cancer prior to age 60 years and no personal history of sarcoma at any age (BS2_Supporting; ClinVar SCVs: SCV000664386.6).", "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1711/1713", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1712", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1711", "type": "EvidenceLine" }, { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1678", "evidenceItem": [ { "@id": "https://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/ei/1/1679", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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://genboree.org/evrepo/api/interpretation/CA16620635/MONDO:0018875/009/el/0/1678/1680", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "contribution": [ { "agent": { "@id": "https://genboree.org/evrepo/api//agent/CG_50013_EP157160812228644", "id": "CG-PCER-AGENT:CG_50013_EP157160812228644", "type": "Agent" }, "contributionDate": { "date": "2025/6/23", "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": "CA16620635/MONDO:0018875/009/ci/CA16620635/MONDO:0018875/009.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1678/1680", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/1/1679", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009/0/1678", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA16620635/MONDO:0018875/009", "metadata": { "created": "2025-06-23T18:56:30.173Z", "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, 23 Jun 2025 18:56:30 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26334-5", "id": "LN:LA26334-5", "label": "Likely Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "fc7cc0ba-f84e-46c8-acb3-ef170d24b394", "variant": { "@id": "https://reg.genome.network/allele/CA16620635", "id": "CAR:CA16620635", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000546.5:c.353C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000546.5(TP53):c.353C>T (p.Thr118Ile)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://genboree.org/evrepo/api/summarysrvc", "when": "2026-04-19T12:57:30.517Z" } }, "status": { "code": 200, "name": "OK" } }