{"_id":"chr11:g.17414584G>T","_version":2,"chrom":"11","clingen":{"caid":"CA379809600"},"clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":1782679,"alt":"T","chrom":"11","cytogenic":"11p15.1","gene":{"id":"6833","symbol":"ABCC8"},"hg19":{"end":17436131,"start":17436131},"hg38":{"end":17414584,"start":17414584},"hgvs":{"coding":["LRG_790t1:c.2318C>A","LRG_790t2:c.2321C>A","NM_000352.6:c.2318C>A","NM_001287174.3:c.2321C>A","NM_001351295.2:c.2384C>A","NM_001351296.2:c.2318C>A","NM_001351297.2:c.2315C>A"],"genomic":["LRG_790:g.67319C>A","NC_000011.10:g.17414584G>T","NC_000011.9:g.17436131G>T","NG_008867.1:g.67319C>A","NG_054084.1:g.1715G>T"],"non-coding":"NR_147094.2:n.2387C>A","protein":["LRG_790p1:p.Ser773Ter","LRG_790p2:p.Ser774Ter","NP_000343.2:p.Ser773Ter","NP_001274103.1:p.Ser774Ter","NP_001338224.1:p.Ser795Ter","NP_001338225.1:p.Ser773Ter","NP_001338226.1:p.Ser772Ter"]},"rcv":{"accession":"RCV002308211","clinical_significance":"Likely pathogenic","conditions":{"identifiers":{"medgen":"C2931832","mondo":"MONDO:0009734","omim":"256450","orphanet":"276598"},"name":"Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)","synonyms":["HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS","HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY","NESIDIOBLASTOSIS OF PANCREAS","Persistent Hyperinsulinemia Hypoglycemia of Infancy","Persistent hyperinsulinemic hypoglycemia of infancy"]},"last_evaluated":"2022-03-10","number_submitters":1,"origin":"unknown","preferred_name":"NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)","review_status":"criteria provided, single submitter"},"ref":"G","type":"single nucleotide variant","variant_id":1725152},"dbnsfp":{"_license":"http://bit.ly/2VLnQBz","aa":{"alt":"X","codon_degeneracy":[0,0,0,0,0,0,0,0],"codonpos":[2,2,2,2,2,2,2,2],"pos":[795,774,773,774,772,772,773,690],"ref":"S","refcodon":["TCG","TCG","TCG","TCG","TCG","TCG","TCG","TCG"]},"aloft":{"confidence":"High","fraction_transcripts_affected":"3/3","pred":"Recessive","prob_dominant":"0.27235","prob_recessive":"0.7082","prob_tolerant":"0.01945"},"alt":"T","altai_neandertal":["G","G"],"ancestral_allele":"G","appris":["alternative1","principal3","alternative1","alternative1","alternative1"],"bayesdel":{"add_af":{"pred":"D","rankscore":0.99412,"score":0.625005},"no_af":{"pred":"D","rankscore":0.99401,"score":0.66}},"bstatistic":{"converted_rankscore":0.68665,"score":593.0},"cadd":{"phred":49.0,"raw_rankscore":0.99821,"raw_score":10.674399},"chagyrskaya_neandertal":["G","G"],"chrom":"11","clinvar":{"clinvar_id":"1725152","clnsig":"Likely_pathogenic","hgvs":"NC_000011.10:g.17414584G>T","medgen":"C2931832","omim":"256450","orphanet":["276575","276598"],"review":"criteria_provided,_single_submitter","trait":"Hyperinsulinemic_hypoglycemia,_familial,_1"},"dann":{"rankscore":0.7602,"score":0.9963049036758878},"denisova":["G","G"],"eigen":{"phred_coding":13.41561,"raw_coding":0.983606252209706,"raw_coding_rankscore":0.95218},"eigen-pc":{"phred_coding":11.08909,"raw_coding":0.830501883318697,"raw_coding_rankscore":0.91826},"ensembl":{"geneid":["ENSG00000006071","ENSG00000006071","ENSG00000006071","ENSG00000006071","ENSG00000006071","ENSG00000006071","ENSG00000006071","ENSG00000006071"],"proteinid":["ENSP00000494321","ENSP00000495271","ENSP00000374467","ENSP00000303960","ENSP00000494101","ENSP00000493749","ENSP00000494450","ENSP00000495389"],"transcriptid":["ENST00000644772","ENST00000643878","ENST00000389817","ENST00000302539","ENST00000646902","ENST00000642271","ENST00000643260","ENST00000647015"]},"fathmm-mkl":{"coding_group":"AEFDBI","coding_pred":"D","coding_rankscore":0.80666,"coding_score":0.98221},"fathmm-xf":{"coding_pred":"N","coding_rankscore":0.43058,"coding_score":0.330594},"fitcons":{"gm12878":{"confidence_value":0,"rankscore":0.19063,"score":0.563428},"h1-hesc":{"confidence_value":0,"rankscore":0.2886,"score":0.577349},"huvec":{"confidence_value":0,"rankscore":0.41899,"score":0.613276},"integrated":{"confidence_value":0,"rankscore":0.20929,"score":0.516011}},"gencode_basic":["Y","Y","Y","Y","Y","Y","Y","Y"],"genename":["ABCC8","ABCC8","ABCC8","ABCC8","ABCC8","ABCC8","ABCC8","ABCC8"],"genocanyon":{"rankscore":0.74766,"score":0.999999999979604},"gerp":{"91_mammals":{"rankscore":0.79688,"score":4.19}},"gerp++":{"nr":5.19,"rs":5.19,"rs_rankscore":0.71428},"hg18":{"end":17392707,"start":17392707},"hg19":{"end":17436131,"start":17436131},"hg38":{"end":17414584,"start":17414584},"hgvsc":["c.2384C>A","c.2318C>A","c.2069C>A","c.2321C>A","c.2315C>A"],"hgvsp":["p.Ser773Ter","p.Ser690Ter","p.S773X","p.S774X","p.Ser774*","p.Ser795Ter","p.Ser774Ter","p.Ser772Ter","p.Ser773*"],"interpro":{"domain":["ABC transporter-like|ABC transporter-like|AAA+ ATPase domain","ABC transporter-like|ABC transporter-like|AAA+ ATPase domain","ABC transporter-like|ABC transporter-like|AAA+ ATPase domain","ABC transporter-like|ABC transporter-like|AAA+ ATPase domain","ABC transporter-like|ABC transporter-like|AAA+ ATPase domain","ABC transporter-like|ABC transporter-like|AAA+ ATPase domain"]},"lrt":{"converted_rankscore":0.8433,"omega":0.0,"pred":"D","score":0.0},"mutationtaster":{"aae":["S773*","S774*"],"converted_rankscore":0.81001,"model":["complex_aae","complex_aae"],"pred":["A","A"],"score":[1.0,1.0]},"phastcons":{"100way_vertebrate":{"rankscore":0.71638,"score":1.0},"17way_primate":{"rankscore":0.44837,"score":0.913},"470way_mammalian":{"rankscore":0.68203,"score":1.0}},"phylop":{"100way_vertebrate":{"rankscore":0.88153,"score":8.01},"17way_primate":{"rankscore":0.7674,"score":0.676},"470way_mammalian":{"rankscore":0.95496,"score":11.755}},"ref":"G","siphy_29way":{"logodds_rankscore":0.66184,"logodds_score":14.3407,"pi":{"a":0.0,"c":0.1481,"g":0.8519,"t":0.0}},"tsl":[1,5],"uniprot":[{"acc":"A0A2R8Y4V0","entry":"A0A2R8Y4V0_HUMAN"},{"acc":"Q09428-2","entry":"ABCC8_HUMAN"},{"acc":"Q09428","entry":"ABCC8_HUMAN"},{"acc":"Q09428-2","entry":"ABCC8_HUMAN"},{"acc":"A0A2R8Y4Z4","entry":"A0A2R8Y4Z4_HUMAN"},{"acc":"A0A2R8YDG0","entry":"A0A2R8YDG0_HUMAN"},{"acc":"A0A2R8Y5D8","entry":"A0A2R8Y5D8_HUMAN"},{"acc":"A0A2R8Y6Q0","entry":"A0A2R8Y6Q0_HUMAN"}],"vep_canonical":"YES","vest4":{"rankscore":0.93135,"score":[0.927,0.927]},"vindijia_neandertal":["G","G"]},"hg38":{"end":17414584,"start":17414584},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":[{"cdna":{"length":"4924","position":"2390"},"cds":{"length":"4749","position":"2321"},"effect":"stop_gained","feature_id":"NM_001287174.1","feature_type":"transcript","gene_id":"ABCC8","genename":"ABCC8","hgvs_c":"c.2321C>A","hgvs_p":"p.Ser774*","protein":{"length":"1582","position":"774"},"putative_impact":"HIGH","rank":"19","total":"39","transcript_biotype":"protein_coding"},{"cdna":{"length":"4921","position":"2387"},"cds":{"length":"4746","position":"2318"},"effect":"stop_gained","feature_id":"NM_000352.4","feature_type":"transcript","gene_id":"ABCC8","genename":"ABCC8","hgvs_c":"c.2318C>A","hgvs_p":"p.Ser773*","protein":{"length":"1581","position":"773"},"putative_impact":"HIGH","rank":"19","total":"39","transcript_biotype":"protein_coding"}],"lof":{"gene_id":"ABCC8","genename":"ABCC8","number_of_transcripts_in_gene":"2","percent_of_transcripts_affected":"1.00"},"nmd":{"gene_id":"ABCC8","genename":"ABCC8","number_of_transcripts_in_gene":"2","percent_of_transcripts_affected":"1.00"}},"vcf":{"alt":"T","position":"17414584","ref":"G"}}