{ "data": { "@context": "https://erepo.genome.network/evrepo/api/context", "@id": "https://cgerepoapi/evrepo/api/summary/classification/4b977a47-a3af-452c-bf3f-c9d6a9c2b38b/doc/sepio/version/1.1.0", "assertionMethod": { "type": "VariantPathogenicityInterpretationGuideline" }, "condition": { "@id": "https://api.monarchinitiative.org/api/bioentity/phenotype/MONDO:0010119", "id": "MONDO:0010119", "label": "Glanzmann's thrombasthenia", "type": "GeneticCondition" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1684", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/ei/1/1685", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "contributionDate": { "date": "2021/5/7", "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/CA8602928/MONDO:0010119/011/el/0/1684/1686", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "comments": "HSF and MaxEntScan do not predict there to be an impact to the splice consensus sequence nor the creation of a new splice site. ", "contributionDate": { "date": "2021/5/7", "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": "CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1684/1686", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/1/1685", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1684", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1777", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/ei/1/1778", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "contributionDate": { "date": "2021/5/7", "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/0087", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000325", "id": "SEPIO:0000325", "label": "Benign Stand Alone" }, "id": "0087", "label": "BA1", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1777/1779", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "comments": "The overall allele frequency in gnomAD is 0.001924 with a MAF of 0.01899 (472/24,854 alleles) in the African population. This is above the >0.0024 threshold.", "contributionDate": { "date": "2021/5/7", "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": "CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1777/1779", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/1/1778", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1777", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1654", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/ei/1/1655", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "contributionDate": { "date": "2021/5/7", "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/0079", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000327", "id": "SEPIO:0000327", "label": "Benign Supporting" }, "id": "0079", "label": "BP7", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1654/1656", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "comments": "HSF and MaxEntScan do not predict there to be an impact to the splice consensus sequence nor the creation of a new splice site. The nucleotide is not highly conserved (PhyloP score 0.71).", "contributionDate": { "date": "2021/5/7", "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": "CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1654/1656", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/1/1655", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1654", "type": "EvidenceLine" }, { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1633", "evidenceItem": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/ei/1/1634", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "contributionDate": { "date": "2021/5/7", "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/0063", "defaultStrength": { "@id": "https://obofoundry.org/sepio/SEPIO:0000329", "id": "SEPIO:0000329", "label": "Pathogenic Supporting" }, "id": "0063", "label": "PP4", "type": "Criterion" }, "evidenceLine": [ { "@id": "https://erepo.genome.network/evrepo/api/interpretation/CA8602928/MONDO:0010119/011/el/0/1633/1635", "evidenceItem": [ { "@id": "CG-PCER:curatorInference/CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "contribution": [ { "agent": { "@id": "https://erepo.genome.network/evrepo/api//agent/CG_50040_EP161161244771392", "id": "CG-PCER-AGENT:CG_50040_EP161161244771392", "type": "Agent" }, "comments": "This variant has been identified in one patient from internal lab data by an inherited thrombocytopenia panel. The patient had thrombocytopenia with no history of bleeding. Laboratory studies from 2011-2018 have shown platelet counts from 98,000/uL- 127,000/uL, MPVs from 8.8 fl-11.3 fL (reference of 8-12 fL) and WBC from 4.0 k/uL- 5.3 k/uL. There were not phenotypes highly specific to GT, such as impaired aggregation to all agonists except ristocetin or reduced surface expression of GPIIb-GPIIIa.", "contributionDate": { "date": "2021/5/7", "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": "CA8602928/MONDO:0010119/011/ci/CA8602928/MONDO:0010119/011.002", "type": "InfFromBkgrndSciKnow" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1633/1635", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/1/1634", "statementOutcome": { "@id": "SEPIO:0000224", "label": "Not Met" }, "type": "CriterionAssessment" } ], "evidenceStrength": { "@id": "https://obofoundry.org/sepio" }, "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011/0/1633", "type": "EvidenceLine" } ], "id": "CG-PCER-VARINT:CA8602928/MONDO:0010119/011", "metadata": { "created": "2024-09-27T21:48:54.088Z", "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 21:48:53 -0000", "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)", "version": "1.1.0" }, "statementOutcome": { "@id": "https://loinc.org/LA6675-8", "id": "LN:LA6675-8", "label": "Benign" }, "type": "VariantPathogenicityInterpretation", "uuid": "4b977a47-a3af-452c-bf3f-c9d6a9c2b38b", "variant": { "@id": "https://reg.genome.network/allele/CA8602928", "id": "CAR:CA8602928", "relatedContextualAllele": [ { "alleleName": [ { "name": "NM_000419.4:c.1848G>A" } ], "preferred": true } ], "relatedIdentifier": [ { "label": "NM_000419.4(ITGA2B):c.1848G>A (p.Val616=)" } ], "type": "CAR" } }, "metadata": { "rendered": { "by": "https://erepo.genome.network/evrepo/api/summary/srvc", "when": "2026-10-14T07:01:41.827Z" } }, "status": { "code": 200, "name": "OK" } }