{"header":{"type":"esummary","version":"0.3"},"result":{"uids":["9"],"9":{"uid":"9","obj_type":"single nucleotide variant","accession":"VCV000000009","accession_version":"VCV000000009.","title":"NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)","variation_set":[{"measure_id":"15048","variation_xrefs":[{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000019607"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000021464"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000021488"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000159973"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000219921"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000264968"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000271417"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000321635"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000323017"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000500300"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000500796"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000556562"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000558915"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000560787"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000568258"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000576400"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000607867"},{"db_source":"UniProtKB","db_id":"Q30201#VAR_004398"},{"db_source":"OMIM","db_id":"613609.0001"},{"db_source":"dbSNP","db_id":"1800562"},{"db_source":"ClinGen","db_id":"CA113795"},{"db_source":"Genetic Testing Registry (GTR)","db_id":"GTR000007768"}],"variation_name":"NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)","cdna_change":"c.845G>A","aliases":[],"variation_loc":[{"status":"current","assembly_name":"GRCh38","chr":"6","band":"6p22.2","start":"26092913","stop":"26092913","inner_start":"","inner_stop":"","outer_start":"","outer_stop":"","display_start":"26092913","display_stop":"26092913","assembly_acc_ver":"GCF_000001405.38","annotation_release":"","alt":"","ref":""},{"status":"previous","assembly_name":"GRCh37","chr":"6","band":"6p22.2","start":"26093141","stop":"26093141","inner_start":"","inner_stop":"","outer_start":"","outer_stop":"","display_start":"26093141","display_stop":"26093141","assembly_acc_ver":"GCF_000001405.25","annotation_release":"","alt":"","ref":""}],"allele_freq_set":[{"source":"Exome Aggregation Consortium (ExAC)","value":"0.03243","minor_allele":""},{"source":"The Genome Aggregation Database (gnomAD), exomes","value":"0.03321","minor_allele":""},{"source":"Trans-Omics for Precision Medicine (TOPMed)","value":"0.03481","minor_allele":""},{"source":"The Genome Aggregation Database (gnomAD)","value":"0.03880","minor_allele":""},{"source":"1000 Genomes Project","value":"0.01258","minor_allele":"A"}],"variant_type":"single nucleotide variant","canonical_spdi":"NC_000006.12:26092912:G:A"}],"supporting_submissions":{"scv":["SCV000493004","SCV000151394","SCV000221190","SCV001194044","SCV001905583","SCV002028313","SCV002576300","SCV002580992","SCV000461887","SCV000607202","SCV003799234","SCV003920032","SCV003931195","SCV004022244","SCV004024088","SCV000245793","SCV004177020","SCV000219175","SCV004120883","SCV004803175","SCV002525758","SCV001523198","SCV005086593","SCV000020162","SCV001246053","SCV005198438","SCV000329362","SCV000206975","SCV000267038","SCV000223934","SCV000839959","SCV000230091","SCV001137062","SCV000883106","SCV001251531","SCV001448752","SCV001519562","SCV001549492","SCV001749341","SCV001984982","SCV002011713","SCV002061285","SCV002502491","SCV002044430","SCV002568182","SCV003925227","SCV004812520","SCV003702847","SCV002550674"],"rcv":["RCV000000019","RCV000178096","RCV000210820","RCV000308358","RCV000414811","RCV001270034","RCV001248830","RCV001731264","RCV002280089","RCV002512585","RCV003224084","RCV003493406"]},"germline_classification":{"description":"Pathogenic/Pathogenic, low penetrance; other; risk factor","last_evaluated":"2024/07/31 00:00","review_status":"criteria provided, multiple submitters, no conflicts","fda_recognized_database":"","trait_set":[{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0392514"},{"db_source":"MONDO","db_id":"MONDO:0006507"},{"db_source":"OMIM","db_id":"PS235200"}],"trait_name":"Hereditary hemochromatosis"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"79230"},{"db_source":"MedGen","db_id":"C0268060"},{"db_source":"MONDO","db_id":"MONDO:0019257"}],"trait_name":"Juvenile hemochromatosis"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C4023819"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0010461"}],"trait_name":"Abnormality of the male genitalia"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0004941"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0000708"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0000715"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0002368"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0002456"}],"trait_name":"Atypical behavior"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0030193"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0012531"}],"trait_name":"Pain"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C4025831"},{"db_source":"MONDO","db_id":"MONDO:0003620"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0000759"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0003483"}],"trait_name":"Abnormal peripheral nervous system morphology"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0000737"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0002027"}],"trait_name":"Abdominal pain"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0497552"},{"db_source":"MONDO","db_id":"MONDO:0002320"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0000707"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0001333"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0006987"}],"trait_name":"Abnormality of the nervous system"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0031117"},{"db_source":"MONDO","db_id":"MONDO:0005244"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0009830"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0003157"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0003407"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0007088"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0007235"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0007355"}],"trait_name":"Peripheral neuropathy"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"139498"},{"db_source":"Orphanet","db_id":"465508"},{"db_source":"MedGen","db_id":"C3469186"},{"db_source":"MONDO","db_id":"MONDO:0021001"},{"db_source":"OMIM","db_id":"235200"}],"trait_name":"Hemochromatosis type 1"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C2673520"},{"db_source":"MONDO","db_id":"MONDO:0012971"},{"db_source":"OMIM","db_id":"612635"}],"trait_name":"Microvascular complications of diabetes, susceptibility to, 7"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"79473"},{"db_source":"MedGen","db_id":"C0162532"},{"db_source":"MONDO","db_id":"MONDO:0008297"},{"db_source":"OMIM","db_id":"176200"}],"trait_name":"Variegate porphyria"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"101330"},{"db_source":"Orphanet","db_id":"443062"},{"db_source":"MedGen","db_id":"C0268323"},{"db_source":"MONDO","db_id":"MONDO:0008296"},{"db_source":"OMIM","db_id":"176100"}],"trait_name":"Familial porphyria cutanea tarda"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"139498"},{"db_source":"Orphanet","db_id":"465508"},{"db_source":"MedGen","db_id":"C3469186"},{"db_source":"MONDO","db_id":"MONDO:0021001"},{"db_source":"OMIM","db_id":"235200"}],"trait_name":"Hemochromatosis type 1"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C3280096"},{"db_source":"OMIM","db_id":"614193"}],"trait_name":"Transferrin serum level quantitative trait locus 2"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C1863052"},{"db_source":"MONDO","db_id":"MONDO:0007088"},{"db_source":"OMIM","db_id":"104300"}],"trait_name":"Alzheimer disease type 1"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"167848"},{"db_source":"MedGen","db_id":"C0878544"},{"db_source":"MONDO","db_id":"MONDO:0004994"},{"db_source":"Human Phenotype Ontology","db_id":"HP:0001638"}],"trait_name":"Cardiomyopathy"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C0950123"},{"db_source":"MeSH","db_id":"D030342"}],"trait_name":"Inborn genetic diseases"},{"trait_xrefs":[],"trait_name":"HFE-related disorder"},{"trait_xrefs":[{"db_source":"MedGen","db_id":"C3661900"}],"trait_name":"not provided"},{"trait_xrefs":[{"db_source":"Orphanet","db_id":"140162"},{"db_source":"MedGen","db_id":"C0027672"},{"db_source":"MeSH","db_id":"D009386"},{"db_source":"MONDO","db_id":"MONDO:0015356"}],"trait_name":"Hereditary cancer-predisposing syndrome"}]},"clinical_impact_classification":{"description":"","last_evaluated":"1/01/01 00:00","review_status":"","fda_recognized_database":"","trait_set":[]},"oncogenicity_classification":{"description":"","last_evaluated":"1/01/01 00:00","review_status":"","fda_recognized_database":"","trait_set":[]},"record_status":"","gene_sort":"HFE","chr_sort":"06","location_sort":"00000000000026092913","variation_set_name":"","variation_set_id":"","genes":[{"symbol":"HFE","geneid":"3077","strand":"+","source":"submitted"}],"molecular_consequence_list":["missense variant","intron variant"],"protein_change":"C282Y, C176Y, C180Y, C190Y, C194Y, C259Y, C268Y, C102Y, C279Y","fda_recognized_database":""}}}
