{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/246061da-c54d-4473-bf35-633ebf160104/doc/sepio/version/1.2.0", "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/CA9090795/MONDO:0021060/004/el/0/1804", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9090795/MONDO:0021060/004/ei/1/1805", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "contributionDate": { "date": "2019/12/3", "description": "Date on which this evidence was provided" }, 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"Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9090795/MONDO:0021060/004/el/0/1702/1704", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA9090795/MONDO:0021060/004/ci/CA9090795/MONDO:0021060/004.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "Variant identified in a prenatal chorionic villus specimen obtained from a male fetus undergoing testing for Noonan Syndrome and Related Conditions on an NGS panel of 9 genes. The clinical indication was ‘Abnormal fetal ultrasound findings’ and no other pathogenic or VUS findings were reported. The final result interpretation was 'Negative' and not supporting an increased risk of Noonan syndrome or related conditions. Additionally, no numerical abnormalities for chromosomes 13, 18, 21, X and Y were identified. Mutated in colorectal cancer (MCC) analysis was performed and no contamination was detected. Chromosomal microarray results were positive for a heterozygous 79 KB interstitial deletion of 15q24.2->24.3 that was reported to span one gene (ETFA) associated with autosomal recessive glutaric academia IIA (Integrated Genetics internal data). Cannot be counted due to age requirement.", "contributionDate": { "date": "2019/12/3", "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": "CA9090795/MONDO:0021060/004/ci/CA9090795/MONDO:0021060/004.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004/0/1702/1704", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004/1/1703", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004/0/1702", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9090795/MONDO:0021060/004/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA9090795/MONDO:0021060/004/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "contributionDate": { "date": "2019/12/3", "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/CA9090795/MONDO:0021060/004/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA9090795/MONDO:0021060/004/ci/CA9090795/MONDO:0021060/004.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50021_EP155190663717081", "id": "CG-PCER-AGENT:CG_50021_EP155190663717081", "type": "Agent" }, "comments": "No predicted splice impact, not conserved and present in 7 other species including several reptiles.", "contributionDate": { "date": "2019/12/3", "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": "CA9090795/MONDO:0021060/004/ci/CA9090795/MONDO:0021060/004.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004/0/1684", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA9090795/MONDO:0021060/004", "metadata": { "created": "2024-09-27T20:17:07.760Z", "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 20:17:07 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.2.0" }, "statementOutcome": { "@id": "https://loinc.org/LA26334-5", "id": "LN:LA26334-5", "label": "Likely Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "246061da-c54d-4473-bf35-633ebf160104", "variant": { "@id": "https://reg.genome.network/allele/CA9090795", "id": "CAR:CA9090795", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_030662.3:c.919+4C>T" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_030662.3(MAP2K2):c.919+4C>T" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-11-11T19:40:38.343Z" } }, "status": { "code": 200, "name": "OK" } }