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which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "id": "CA235301/MONDO:0018997/004/ci/CA235301/MONDO:0018997/004.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004/0/1804", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004", "metadata": { "created": "2024-10-02T03:38:42.949Z", "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, 02 Oct 2024 03:38:42 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "3.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "bf62d2f1-6047-4d6b-9cb9-dfdab291cdfb", "variant": { "@id": "https://reg.genome.network/allele/CA235301", "id": "CAR:CA235301", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004985.4:c.101C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004985.4(KRAS):c.101C>T (p.Pro34Leu)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/bf62d2f1-6047-4d6b-9cb9-dfdab291cdfb/doc/sepio/version/2.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243114", "label": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.1.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.1.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018997", "id": "MONDO:0018997", "label": "Noonan syndrome", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA235301/MONDO:0018997/044/el/0/1696", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA235301/MONDO:0018997/044/ei/1/1697", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "contributionDate": { "date": "2024/9/26", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": "https://obofoundry.org/sepio/0000156", "id": "SEPIO:0000516", 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"Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/0057", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "0057", "label": "PS4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA235301/MONDO:0018997/044/el/0/1699/1701", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA235301/MONDO:0018997/044/ci/CA235301/MONDO:0018997/044.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "This variant has been reported in 3 individuals with clinical features of a RASopathy (PS4_Moderate, PMIDs: 17056636, 30732632, ClinVar SCV: SCV000207884.10, Internal lab contributors: GeneDx)", "contributionDate": { "date": "2024/9/26", "description": "Date on which this evidence was 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"https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "This variant was absent from gnomAD v4.1.0 meeting PM2_Supporting", "contributionDate": { "date": "2024/9/26", "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": "CA235301/MONDO:0018997/044/ci/CA235301/MONDO:0018997/044.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/044/0/1804/1806", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/044/1/1805", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/044/0/1804", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/044", "metadata": { "created": "2024-09-28T06:05:48.185Z", "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": "Sat, 28 Sep 2024 06:05:47 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "2.0.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6668-3", "id": "LN:LA6668-3", "label": "Pathogenic" }, "type": "VariantPathogenicityInterpretation", "uuid": "bf62d2f1-6047-4d6b-9cb9-dfdab291cdfb", "variant": { "@id": "https://reg.genome.network/allele/CA235301", "id": "CAR:CA235301", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004985.4:c.101C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004985.4(KRAS):c.101C>T (p.Pro34Leu)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/bf62d2f1-6047-4d6b-9cb9-dfdab291cdfb/doc/sepio/version/1.0.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/643243114", "label": "ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.1.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.1.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0018997", "id": "MONDO:0018997", "label": "Noonan syndrome", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA235301/MONDO:0018997/004/el/0/1624", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA235301/MONDO:0018997/004/ei/1/1625", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155189947580566", "id": "CG-PCER-AGENT:CG_50021_EP155189947580566", "type": "Agent" }, "contributionDate": { "date": "2024/9/26", "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/CA235301/MONDO:0018997/004/el/0/1624/1626", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA235301/MONDO:0018997/004/ci/CA235301/MONDO:0018997/004.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155189947580566", "id": "CG-PCER-AGENT:CG_50021_EP155189947580566", "type": "Agent" }, "comments": "The c.101C>T (p.Pro34Leu) variant in KRAS has been reported as a confirmed de novo occurrence in 2 patients and an unconfirmed de novo occurrence in 1 patient with clinical features of a RASopathy (PS2_VeryStrong; PMID 17056636, 30732632, ClinVar SCV: SCV000207884.10, Internal lab contributors: GeneDx).", "contributionDate": { "date": "2024/9/26", "description": "Date on which this evidence was provided" }, "contributionRole": { "@id": 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12590).", "contributionDate": { "date": "2024/9/26", "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": "CA235301/MONDO:0018997/004/ci/CA235301/MONDO:0018997/004.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004/0/1780/1782", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004/1/1781", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA235301/MONDO:0018997/004/0/1780", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA235301/MONDO:0018997/004/el/0/1837", "evidenceItem": [ { "@id": 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