{"variant":"17:g.41242962_41242963insGA","colocatedVariants":[{"dbSnpId":"rs80357742"}],"signalAnnotation":{"license":"https://www.signaldb.org/about","annotation":[]},"originalVariantQuery":"17:g.41242962_41242963insGA","hgvsg":"17:g.41242962_41242963insGA","id":"17:g.41242962_41242963insGA","assembly_name":"GRCh37","seq_region_name":"17","start":41242963,"end":41242962,"allele_string":"-/GA","strand":1,"most_severe_consequence":"frameshift_variant","transcript_consequences":[{"exon":"10/22","transcript_id":"ENST00000309486","hgvsp":"ENSP00000310938.4:p.Gln1099LeufsTer11","hgvsc":"ENST00000309486.4:c.3294_3295dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000310938","protein_start":1099,"protein_end":1099,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007297.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/19","transcript_id":"ENST00000346315","hgvsp":"ENSP00000246907.4:p.Gln1395LeufsTer11","hgvsc":"ENST00000346315.3:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000246907","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"7/19","transcript_id":"ENST00000351666","hgvsp":"ENSP00000338007.3:p.Gln212LeufsTer11","hgvsc":"ENST00000351666.3:c.633_634dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000338007","protein_start":212,"protein_end":212,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"10/22","transcript_id":"ENST00000352993","hgvsp":"ENSP00000312236.5:p.Gln253LeufsTer11","hgvsc":"ENST00000352993.3:c.756_757dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000312236","protein_start":253,"protein_end":253,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/18","transcript_id":"ENST00000354071","hgvsp":"ENSP00000326002.6:p.Gln1395LeufsTer11","hgvsc":"ENST00000354071.3:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000326002","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/23","transcript_id":"ENST00000357654","hgvsp":"ENSP00000350283.3:p.Gln1395LeufsTer11","hgvsc":"ENST00000357654.3:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000350283","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","canonical":"1","refseq_transcript_ids":["NM_007294.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000412061","variant_allele":"GA","protein_id":"ENSP00000397145","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/23","transcript_id":"ENST00000461221","hgvsc":"ENST00000461221.1:c.*3965_*3966dup","variant_allele":"GA","protein_id":"ENSP00000418548","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["splice_region_variant","3_prime_UTR_variant","NMD_transcript_variant"]},{"exon":"2/4","transcript_id":"ENST00000461574","hgvsp":"ENSP00000417241.1:p.Gln160LeufsTer11","hgvsc":"ENST00000461574.1:c.476_477dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000417241","protein_start":160,"protein_end":160,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000467274","variant_allele":"GA","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/22","transcript_id":"ENST00000468300","hgvsp":"ENSP00000417148.1:p.Gln292LeufsTer11","hgvsc":"ENST00000468300.1:c.873_874dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000417148","protein_start":292,"protein_end":292,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007299.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000470026","variant_allele":"GA","protein_id":"ENSP00000419274","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/24","transcript_id":"ENST00000471181","hgvsp":"ENSP00000418960.2:p.Gln1395LeufsTer11","hgvsc":"ENST00000471181.2:c.4182_4183dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418960","protein_start":1395,"protein_end":1395,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007300.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000473961","variant_allele":"GA","protein_id":"ENSP00000420201","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000476777","variant_allele":"GA","protein_id":"ENSP00000417554","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000477152","variant_allele":"GA","protein_id":"ENSP00000419988","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"11/18","transcript_id":"ENST00000478531","hgvsp":"ENSP00000420412.1:p.Gln291LeufsTer11","hgvsc":"ENST00000478531.1:c.870_871dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000420412","protein_start":291,"protein_end":291,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"5/12","transcript_id":"ENST00000484087","hgvsp":"ENSP00000419481.1:p.Gln166LeufsTer11","hgvsc":"ENST00000484087.1:c.495_496dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000419481","protein_start":166,"protein_end":166,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"5/7","transcript_id":"ENST00000487825","hgvsp":"ENSP00000418212.1:p.Gln167LeufsTer11","hgvsc":"ENST00000487825.1:c.498_499dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418212","protein_start":167,"protein_end":167,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"11/23","transcript_id":"ENST00000491747","hgvsp":"ENSP00000420705.2:p.Gln292LeufsTer11","hgvsc":"ENST00000491747.2:c.873_874dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000420705","protein_start":292,"protein_end":292,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","refseq_transcript_ids":["NM_007298.3"],"consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000492859","variant_allele":"GA","protein_id":"ENSP00000420253","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"exon":"10/22","transcript_id":"ENST00000493795","hgvsp":"ENSP00000418775.1:p.Gln1348LeufsTer11","hgvsc":"ENST00000493795.1:c.4041_4042dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418775","protein_start":1348,"protein_end":1348,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"exon":"10/17","transcript_id":"ENST00000493919","hgvsp":"ENSP00000418819.1:p.Gln245LeufsTer11","hgvsc":"ENST00000493919.1:c.732_733dup","variant_allele":"GA","codons":"cag/cTCag","protein_id":"ENSP00000418819","protein_start":245,"protein_end":245,"gene_symbol":"BRCA1","gene_id":"ENSG00000012048","amino_acids":"Q/LX","hgnc_id":"1100","consequence_terms":["frameshift_variant","splice_region_variant"]},{"transcript_id":"ENST00000494123","variant_allele":"GA","protein_id":"ENSP00000419103","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000497488","variant_allele":"GA","protein_id":"ENSP00000418986","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["downstream_gene_variant"]},{"transcript_id":"ENST00000586385","hgvsc":"ENST00000586385.1:c.5-26996_5-26995dup","variant_allele":"GA","protein_id":"ENSP00000465818","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["intron_variant"]},{"transcript_id":"ENST00000591534","hgvsc":"ENST00000591534.1:c.-43-16426_-43-16425dup","variant_allele":"GA","protein_id":"ENSP00000467329","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["intron_variant"]},{"transcript_id":"ENST00000591849","hgvsc":"ENST00000591849.1:c.-99+34324_-99+34325dup","variant_allele":"GA","protein_id":"ENSP00000465347","gene_symbol":"BRCA1","gene_id":"ENSG00000012048","hgnc_id":"1100","consequence_terms":["intron_variant"]}],"successfully_annotated":true,"my_variant_info":{"license":null,"annotation":{"variant":"chr17:g.41242962_41242963insGA","query":"chr17:g.41242962_41242963insGA","hgvs":"chr17:g.41242962_41242963insGA","snpeff":{"license":"http://bit.ly/2suyRKt"},"vcf":{"alt":"TGA","position":"41242962","ref":"T"},"gnomadExome":{"alleleCount":{"ac":1,"ac_afr":0,"ac_amr":0,"ac_asj":0,"ac_eas":0,"ac_fin":0,"ac_nfe":1,"ac_oth":0,"ac_sas":0},"alleleNumber":{"an":242736,"an_afr":15348,"an_amr":33778,"an_asj":9726,"an_eas":18228,"an_fin":20870,"an_nfe":109448,"an_oth":5942,"an_sas":29396},"alleleFrequency":{"af":4.1197E-6,"af_afr":0.0,"af_amr":0.0,"af_asj":0.0,"af_eas":0.0,"af_fin":0.0,"af_nfe":9.13676E-6,"af_oth":0.0,"af_sas":0.0},"homozygotes":{"hom":0,"hom_afr":0,"hom_amr":0,"hom_asj":0,"hom_eas":0,"hom_fin":0,"hom_nfe":0,"hom_oth":0,"hom_sas":0}}}},"hotspots":{"license":"https://opendatacommons.org/licenses/odbl/1.0/","annotation":[[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[],[]]},"clinvar":{"annotation":{"chromosome":"17","startPosition":41242962,"endPosition":41242963,"referenceAllele":"-","alternateAllele":"GA","clinvarId":55124,"clinicalSignificance":"Pathogenic","conflictingClinicalSignificance":""}},"annotation_summary":{"variant":"17:g.41242962_41242963insGA","genomicLocation":{"chromosome":"17","start":41242962,"end":41242963,"referenceAllele":"-","variantAllele":"GA"},"strandSign":"+","variantType":"INS","assemblyName":"GRCh37","canonicalTranscriptId":"ENST00000357654","transcriptConsequences":[{"transcriptId":"ENST00000357654","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1395Lfs*11","hgvsp":"p.Gln1395LeufsTer11","hgvsc":"ENST00000357654.3:c.4182_4183dup","proteinPosition":{"start":1395,"end":1395},"refSeq":"NM_007294.3","variantClassification":"Frame_Shift_Ins","exon":"11/23","uniprotId":"P38398"}],"transcriptConsequenceSummaries":[{"transcriptId":"ENST00000309486","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1099Lfs*11","hgvsp":"p.Gln1099LeufsTer11","hgvsc":"ENST00000309486.4:c.3294_3295dup","proteinPosition":{"start":1099,"end":1099},"refSeq":"NM_007297.3","variantClassification":"Frame_Shift_Ins","exon":"10/22"},{"transcriptId":"ENST00000346315","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1395Lfs*11","hgvsp":"p.Gln1395LeufsTer11","hgvsc":"ENST00000346315.3:c.4182_4183dup","proteinPosition":{"start":1395,"end":1395},"variantClassification":"Frame_Shift_Ins","exon":"11/19"},{"transcriptId":"ENST00000351666","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q212Lfs*11","hgvsp":"p.Gln212LeufsTer11","hgvsc":"ENST00000351666.3:c.633_634dup","proteinPosition":{"start":212,"end":212},"variantClassification":"Frame_Shift_Ins","exon":"7/19"},{"transcriptId":"ENST00000352993","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q253Lfs*11","hgvsp":"p.Gln253LeufsTer11","hgvsc":"ENST00000352993.3:c.756_757dup","proteinPosition":{"start":253,"end":253},"variantClassification":"Frame_Shift_Ins","exon":"10/22","uniprotId":"P38398-5"},{"transcriptId":"ENST00000354071","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1395Lfs*11","hgvsp":"p.Gln1395LeufsTer11","hgvsc":"ENST00000354071.3:c.4182_4183dup","proteinPosition":{"start":1395,"end":1395},"variantClassification":"Frame_Shift_Ins","exon":"11/18"},{"transcriptId":"ENST00000357654","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1395Lfs*11","hgvsp":"p.Gln1395LeufsTer11","hgvsc":"ENST00000357654.3:c.4182_4183dup","proteinPosition":{"start":1395,"end":1395},"refSeq":"NM_007294.3","variantClassification":"Frame_Shift_Ins","exon":"11/23","uniprotId":"P38398"},{"transcriptId":"ENST00000412061","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000461221","entrezGeneId":"672","consequenceTerms":"splice_region_variant,3_prime_UTR_variant,NMD_transcript_variant","hugoGeneSymbol":"BRCA1","hgvsc":"ENST00000461221.1:c.*3965_*3966dup","variantClassification":"Splice_Region","exon":"11/23","uniprotId":"P38398-2"},{"transcriptId":"ENST00000461574","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q160Lfs*11","hgvsp":"p.Gln160LeufsTer11","hgvsc":"ENST00000461574.1:c.476_477dup","proteinPosition":{"start":160,"end":160},"variantClassification":"Frame_Shift_Ins","exon":"2/4"},{"transcriptId":"ENST00000467274","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000468300","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q292Lfs*11","hgvsp":"p.Gln292LeufsTer11","hgvsc":"ENST00000468300.1:c.873_874dup","proteinPosition":{"start":292,"end":292},"refSeq":"NM_007299.3","variantClassification":"Frame_Shift_Ins","exon":"11/22","uniprotId":"P38398-6"},{"transcriptId":"ENST00000470026","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000471181","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1395Lfs*11","hgvsp":"p.Gln1395LeufsTer11","hgvsc":"ENST00000471181.2:c.4182_4183dup","proteinPosition":{"start":1395,"end":1395},"refSeq":"NM_007300.3","variantClassification":"Frame_Shift_Ins","exon":"11/24","uniprotId":"P38398-7"},{"transcriptId":"ENST00000473961","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000476777","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000477152","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000478531","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q291Lfs*11","hgvsp":"p.Gln291LeufsTer11","hgvsc":"ENST00000478531.1:c.870_871dup","proteinPosition":{"start":291,"end":291},"variantClassification":"Frame_Shift_Ins","exon":"11/18"},{"transcriptId":"ENST00000484087","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q166Lfs*11","hgvsp":"p.Gln166LeufsTer11","hgvsc":"ENST00000484087.1:c.495_496dup","proteinPosition":{"start":166,"end":166},"variantClassification":"Frame_Shift_Ins","exon":"5/12"},{"transcriptId":"ENST00000487825","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q167Lfs*11","hgvsp":"p.Gln167LeufsTer11","hgvsc":"ENST00000487825.1:c.498_499dup","proteinPosition":{"start":167,"end":167},"variantClassification":"Frame_Shift_Ins","exon":"5/7"},{"transcriptId":"ENST00000491747","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q292Lfs*11","hgvsp":"p.Gln292LeufsTer11","hgvsc":"ENST00000491747.2:c.873_874dup","proteinPosition":{"start":292,"end":292},"refSeq":"NM_007298.3","variantClassification":"Frame_Shift_Ins","exon":"11/23","uniprotId":"P38398-3"},{"transcriptId":"ENST00000492859","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000493795","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1348Lfs*11","hgvsp":"p.Gln1348LeufsTer11","hgvsc":"ENST00000493795.1:c.4041_4042dup","proteinPosition":{"start":1348,"end":1348},"variantClassification":"Frame_Shift_Ins","exon":"10/22","uniprotId":"P38398-8"},{"transcriptId":"ENST00000493919","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q245Lfs*11","hgvsp":"p.Gln245LeufsTer11","hgvsc":"ENST00000493919.1:c.732_733dup","proteinPosition":{"start":245,"end":245},"variantClassification":"Frame_Shift_Ins","exon":"10/17"},{"transcriptId":"ENST00000494123","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000497488","entrezGeneId":"672","consequenceTerms":"downstream_gene_variant","hugoGeneSymbol":"BRCA1","variantClassification":"3'Flank"},{"transcriptId":"ENST00000586385","entrezGeneId":"672","consequenceTerms":"intron_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.*2*","hgvsc":"ENST00000586385.1:c.5-26996_5-26995dup","variantClassification":"Intron"},{"transcriptId":"ENST00000591534","entrezGeneId":"672","consequenceTerms":"intron_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.*15*","hgvsc":"ENST00000591534.1:c.-43-16426_-43-16425dup","variantClassification":"Intron"},{"transcriptId":"ENST00000591849","entrezGeneId":"672","consequenceTerms":"intron_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.*33*","hgvsc":"ENST00000591849.1:c.-99+34324_-99+34325dup","variantClassification":"Intron"}],"transcriptConsequenceSummary":{"transcriptId":"ENST00000357654","codonChange":"cag/cTCag","aminoAcids":"Q/LX","aminoAcidRef":"Q","aminoAcidAlt":"LX","entrezGeneId":"672","consequenceTerms":"frameshift_variant,splice_region_variant","hugoGeneSymbol":"BRCA1","hgvspShort":"p.Q1395Lfs*11","hgvsp":"p.Gln1395LeufsTer11","hgvsc":"ENST00000357654.3:c.4182_4183dup","proteinPosition":{"start":1395,"end":1395},"refSeq":"NM_007294.3","variantClassification":"Frame_Shift_Ins","exon":"11/23","uniprotId":"P38398"}}}