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"label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279970/MONDO:0015280/049/el/0/1624/1626", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA279970/MONDO:0015280/049/ci/CA279970/MONDO:0015280/049.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "The p.G469E variant in BRAF has been reported in the literature as a confirmed de novo occurrence in 3 patients with clinical features of a RASopathy (PMIDs: 18042262, 16474404).", "contributionDate": { "date": "2024/10/1", "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": 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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/CA279970/MONDO:0015280/049/el/0/1636/1638", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA279970/MONDO:0015280/049/ci/CA279970/MONDO:0015280/049.002", "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 is absent from gnomAD v4", "contributionDate": { "date": "2024/10/1", "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": "CA279970/MONDO:0015280/049/ci/CA279970/MONDO:0015280/049.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/049/0/1636/1638", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/049/1/1637", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/049/0/1636", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/049", "metadata": { "created": "2024-10-01T19:10:50.355Z", "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": "Tue, 01 Oct 2024 19:10:50 -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": "f75f3f8b-6c9c-41a1-9cee-4716d67229dd", "variant": { "@id": "https://reg.genome.network/allele/CA279970", "id": "CAR:CA279970", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004333.6:c.1406G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/f75f3f8b-6c9c-41a1-9cee-4716d67229dd/doc/sepio/version/2.0.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0021060", "id": "MONDO:0021060", "label": "RASopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279970/MONDO:0021060/049/el/0/1615", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279970/MONDO:0021060/049/ei/1/1616", "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", "label": "curator role", "type": "ContributoryRole" }, "type": "Contribution" } ], "criterion": { "@id": "https://obofoundry.org/sepio/clingen/006", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000216", "id": "SEPIO:0000216", "label": "Pathogenic Moderate" }, "id": "006", "label": "PM1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279970/MONDO:0021060/049/el/0/1615/1617", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA279970/MONDO:0021060/049/ci/CA279970/MONDO:0021060/049.002", "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 is in a location which has been defined by the ClinGen RASopathy Expert Panel to be a mutational hotspot or domain of BRAF (PMID 29493581).", "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": 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We expect it to differ significantly from the final schema.", "producedAtUTC": "Sat, 28 Sep 2024 06:06:25 -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": "f75f3f8b-6c9c-41a1-9cee-4716d67229dd", "variant": { "@id": "https://reg.genome.network/allele/CA279970", "id": "CAR:CA279970", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004333.6:c.1406G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)" } ], "type": "CAR" } }, { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/f75f3f8b-6c9c-41a1-9cee-4716d67229dd/doc/sepio/version/1.0.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015280", "id": "MONDO:0015280", "label": "RASopathy", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279970/MONDO:0015280/004/el/0/1696", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA279970/MONDO:0015280/004/ei/1/1697", "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/CA279970/MONDO:0015280/004/el/0/1696/1698", "evidenceItem": 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30141192, 29907801, 35418823)", "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": "CA279970/MONDO:0015280/004/ci/CA279970/MONDO:0015280/004.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/004/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/004/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/004/0/1735", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA279970/MONDO:0015280/004", "metadata": { "created": "2024-09-27T19:46:36.871Z", "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": "Fri, 27 Sep 2024 19:46:36 -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": "f75f3f8b-6c9c-41a1-9cee-4716d67229dd", "variant": { "@id": "https://reg.genome.network/allele/CA279970", "id": "CAR:CA279970", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_004333.6:c.1406G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)" } ], "type": "CAR" } } ], "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-28T09:59:00.590Z" } }, "status": { "code": 200, "name": "OK" } }