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December 19, 2025 03:17
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| { | |
| "id": "metakb.placeholder:1", | |
| "type": "Statement", | |
| "specifiedBy": { "id": "placeholder" }, | |
| "proposition": { | |
| "type": "VariantTherapeuticResponseProposition", | |
| "subjectVariant": { | |
| "id": "catvar equivalent of GA4GH.VAxxxx from below, we can come up with something", | |
| "content": "the catvar etc" | |
| }, | |
| "geneContextQualifier": { | |
| "id": "normalize.gene.hgnc:11110", | |
| "description": "the object that comes from the normalizer" | |
| }, | |
| "predicate": "predictsSensitivityTo", | |
| "objectTherapeutic": { | |
| "id": "normalize.therapy.rxcui:1546019", | |
| "description": "stuff from normalizer" | |
| }, | |
| "conditionQualifier": { | |
| "id": "normalize.disease.ncit:C4978", | |
| "description": "stuff from normalizer" | |
| } | |
| }, | |
| "hasEvidenceLines": { | |
| "type": "EvidenceLine", | |
| "directionOfEvidenceProvided": "Supports", | |
| "hasEvidenceItems": [ | |
| { | |
| "id": "civic.eid:4487", | |
| "type": "Statement", | |
| "specifiedBy": { | |
| "id": "civic.method:2019", | |
| "type": "Method", | |
| "name": "CIViC Curation SOP (2019)", | |
| "methodType": "variant curation standard operating procedure", | |
| "reportedIn": { | |
| "id": "pmid:31779674", | |
| "type": "Document", | |
| "name": "Danos et al., 2019, Genome Med.", | |
| "title": "Standard operating procedure for curation and clinical interpretation of variants in cancer", | |
| "doi": "10.1186/s13073-019-0687-x", | |
| "pmid": 31779674 | |
| } | |
| }, | |
| "reportedIn": [ | |
| { | |
| "id": "civic.source:1706", | |
| "type": "Document", | |
| "name": "Miller et al., 2016", | |
| "title": "Synthetic Lethal Targeting of ARID1A-Mutant Ovarian Clear Cell Tumors with Dasatinib.", | |
| "pmid": 27364904 | |
| } | |
| ], | |
| "proposition": { | |
| "type": "VariantTherapeuticResponseProposition", | |
| "subjectVariant": { | |
| "id": "civic.mpid:1418", | |
| "type": "CategoricalVariant", | |
| "name": "ARID1A Q456*", | |
| "aliases": ["Q73X"], | |
| "constraints": [ | |
| { | |
| "type": "DefiningAlleleConstraint", | |
| "allele": { | |
| "id": "ga4gh:VA.9JThLjSdIhDMPE04jxRG7NqJiG53yrJO", | |
| "type": "Allele", | |
| "name": "Q456*", | |
| "location": { | |
| "id": "ga4gh:SL.qe09RRJFZqlctMPPFDZEcfemcs8cIYxi", | |
| "type": "SequenceLocation", | |
| "sequenceReference": { | |
| "type": "SequenceReference", | |
| "refgetAccession": "SQ.Xtsz5dT90bJbR0_r5EawKzOdC11qEH0y" | |
| }, | |
| "start": 455, | |
| "end": 456, | |
| "sequence": "Q" | |
| }, | |
| "state": { | |
| "type": "LiteralSequenceExpression", | |
| "sequence": "*" | |
| } | |
| } | |
| } | |
| ], | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "id": "civic.vid:1510", | |
| "system": "https://civicdb.org/variants/", | |
| "code": "1510" | |
| }, | |
| "relation": "exactMatch" | |
| }, | |
| { | |
| "coding": { | |
| "system": "https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=", | |
| "code": "CA339267901" | |
| }, | |
| "relation": "relatedMatch" | |
| }, | |
| { | |
| "coding": { | |
| "system": "https://www.ncbi.nlm.nih.gov/clinvar/variation/", | |
| "code": "NONE FOUND" | |
| }, | |
| "relation": "relatedMatch" | |
| } | |
| ] | |
| }, | |
| "geneContextQualifier": { | |
| "id": "civic.gid:6559", | |
| "conceptType": "Gene", | |
| "name": "ARID1A", | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "id": "ncbigene:8289", | |
| "system": "https://www.ncbi.nlm.nih.gov/gene/", | |
| "code": "8289" | |
| }, | |
| "relation": "exactMatch" | |
| } | |
| ] | |
| }, | |
| "alleleOriginQualifier": { "name": "somatic" }, | |
| "predicate": "predictsSensitivityTo", | |
| "objectTherapeutic": { | |
| "id": "civic.tid:20", | |
| "conceptType": "Therapy", | |
| "name": "Dasatinib", | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "id": "ncit:C38713", | |
| "system": "https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=", | |
| "code": "C38713" | |
| }, | |
| "relation": "exactMatch" | |
| } | |
| ] | |
| }, | |
| "conditionQualifier": { | |
| "id": "civic.did:11", | |
| "conceptType": "Disease", | |
| "name": "Colorectal Cancer", | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "id": "DOID:9256", | |
| "system": "https://disease-ontology.org/?id=", | |
| "code": "DOID:9256" | |
| }, | |
| "relation": "exactMatch" | |
| } | |
| ] | |
| } | |
| }, | |
| "direction": "supports", | |
| "strength": { | |
| "name": "Preclinical evidence", | |
| "primaryCoding": { | |
| "system": "https://civic.readthedocs.io/en/latest/model/evidence/level.html", | |
| "code": "D" | |
| }, | |
| "mappings": [ | |
| { | |
| "coding": { | |
| "name": "preclinical evidence", | |
| "system": "https://go.osu.edu/evidence-codes", | |
| "code": "e000009" | |
| }, | |
| "relation": "exactMatch" | |
| } | |
| ] | |
| } | |
| } | |
| ] | |
| } | |
| } |
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