{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/1b0344d0-aad2-4412-a6e0-ab7c3c719261/doc/sepio/version/1.2.0", "assertionMethod": { "@id": "https://cspec.genome.network/cspec/SequenceVariantInterpretation/id/1568416522", "label": "ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 2.0.0", "type": "VariantPathogenicityInterpretationGuideline", "version": "2.0.0" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0015924", "id": "MONDO:0015924", "label": "pulmonary arterial hypertension", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2061553/MONDO:0015924/125/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2061553/MONDO:0015924/125/ei/1/1805", "contribution": [ { "agent": 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However the impairment of another function through an alternative signaling pathway of BMPRII could not be excluded (PMID 25429696)(BS3_Supporting).", "contributionDate": { "date": "2026/4/10", "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": "CA2061553/MONDO:0015924/125/ci/CA2061553/MONDO:0015924/125.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/0/1645/1647", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/1/1646", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/0/1645", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2061553/MONDO:0015924/125/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2061553/MONDO:0015924/125/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50071_EP171477303239257", "id": "CG-PCER-AGENT:CG_50071_EP171477303239257", "type": "Agent" }, "contributionDate": { "date": "2026/4/10", "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/CA2061553/MONDO:0015924/125/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA2061553/MONDO:0015924/125/ci/CA2061553/MONDO:0015924/125.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50071_EP171477303239257", "id": "CG-PCER-AGENT:CG_50071_EP171477303239257", "type": "Agent" }, "contributionDate": { "date": "2026/4/10", "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": "CA2061553/MONDO:0015924/125/ci/CA2061553/MONDO:0015924/125.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2061553/MONDO:0015924/125/el/0/1735", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA2061553/MONDO:0015924/125/ei/1/1736", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50071_EP171477303239257", "id": "CG-PCER-AGENT:CG_50071_EP171477303239257", "type": "Agent" }, "contributionDate": { "date": "2026/4/10", "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/CA2061553/MONDO:0015924/125/el/0/1735/1737", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA2061553/MONDO:0015924/125/ci/CA2061553/MONDO:0015924/125.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50071_EP171477303239257", "id": "CG-PCER-AGENT:CG_50071_EP171477303239257", "type": "Agent" }, "comments": "This variant has been reported in one proband meeting pulmonary arterial hypertension (SCV000576302.1). However, PS4 cannot be applied because gnomAD v2.1.1 frequency is >0.01% (PM2_Supporting Not Met).", "contributionDate": { "date": "2026/4/10", "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": "CA2061553/MONDO:0015924/125/ci/CA2061553/MONDO:0015924/125.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/0/1735/1737", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/1/1736", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125/0/1735", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA2061553/MONDO:0015924/125", "metadata": { "created": "2026-04-10T19:20:29.968Z", "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, 10 Apr 2026 19:20:29 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.2.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6675-8", "id": "LN:LA6675-8", "label": "Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "1b0344d0-aad2-4412-a6e0-ab7c3c719261", "variant": { "@id": "https://reg.genome.network/allele/CA2061553", "id": "CAR:CA2061553", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_001204.7:c.2618G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T06:37:37.727Z" } }, "status": { "code": 200, "name": "OK" } }