{"_id":"chr13:g.32341274_32341277del","_version":2,"chrom":"13","clingen":{"caid":"CA024495"},"clinvar":{"_license":"http://bit.ly/2SQdcI0","allele_id":131660,"alt":"C","chrom":"13","cytogenic":"13q13.1","gene":{"id":"675","symbol":"BRCA2"},"hg19":{"end":32915414,"start":32915411},"hg38":{"end":32341277,"start":32341274},"hgvs":{"coding":["LRG_293t1:c.6841+80_6841+83del","NM_000059.3:c.6841+78_6841+81delAATT","NM_000059.3:c.6841+80_6841+83delTTAA","NM_000059.4:c.6841+80_6841+83del"],"genomic":["LRG_293:g.30797_30800del","NC_000013.10:g.32915413_32915416del","NC_000013.10:g.32915413_32915416delTTAA","NC_000013.11:g.32341276_32341279del","NG_012772.3:g.30797_30800del","NG_012772.3:g.30797_30800delTTAA","NG_012772.3:g.30797_30800delTTAA"],"non-coding":["U43746.1:n.7069+79_7069+82del4","U43746.1:n.7069+80_7069+83delTTAA"],"protein":[""]},"rcv":[{"accession":"RCV000113661","clinical_significance":"Benign","conditions":{"identifiers":{"medgen":"C2675520","mondo":"MONDO:0012933","omim":"612555","orphanet":"145"},"name":"Breast-ovarian cancer, familial, susceptibility to, 2 (BROVCA2)","synonyms":["Breast-ovarian cancer, familial 2"]},"last_evaluated":"2015-01-12","number_submitters":4,"origin":"germline","preferred_name":"NM_000059.4(BRCA2):c.6841+80_6841+83del","review_status":"reviewed by expert panel"},{"accession":"RCV000114980","clinical_significance":"not provided","conditions":{"identifiers":{"medgen":"C0346153","mondo":"MONDO:0016419","omim":"114480"},"name":"Familial cancer of breast","synonyms":["BREAST CANCER, FAMILIAL","Hereditary breast cancer","hereditary breast carcinoma"]},"number_submitters":1,"origin":"somatic","preferred_name":"NM_000059.4(BRCA2):c.6841+80_6841+83del","review_status":"no assertion provided"},{"accession":"RCV000496478","clinical_significance":"Uncertain significance","conditions":{"identifiers":{"medgen":"CN169374"},"name":"not specified","synonyms":["AllHighlyPenetrant"]},"last_evaluated":"2017-04-20","number_submitters":3,"origin":"germline","preferred_name":"NM_000059.4(BRCA2):c.6841+80_6841+83del","review_status":"criteria provided, single submitter"},{"accession":"RCV000580757","clinical_significance":"Benign","conditions":{"identifiers":{"medgen":"C0027672","mesh":"D009386","mondo":"MONDO:0015356"},"name":"Hereditary cancer-predisposing syndrome","synonyms":["Neoplastic Syndromes, Hereditary","Tumor predisposition","Cancer predisposition","Hereditary neoplastic syndrome","Hereditary Cancer Syndrome"]},"last_evaluated":"2015-03-10","number_submitters":1,"origin":"germline","preferred_name":"NM_000059.4(BRCA2):c.6841+80_6841+83del","review_status":"criteria provided, single submitter"},{"accession":"RCV001682797","clinical_significance":"Benign","conditions":{"identifiers":{"medgen":"C3661900"},"name":"not provided","synonyms":["none provided","RECLASSIFIED - ADRA2C POLYMORPHISM","RECLASSIFIED - ADRB1 POLYMORPHISM"]},"last_evaluated":"2015-03-03","number_submitters":1,"origin":"germline","preferred_name":"NM_000059.4(BRCA2):c.6841+80_6841+83del","review_status":"criteria provided, single submitter"}],"ref":"CAATT","rsid":"rs11571661","type":"Deletion","variant_id":126122},"gnomad_genome":{"_license":"http://bit.ly/2I1cl1I","ac":{"ac":42671,"ac_afr":9440,"ac_afr_xx":5019,"ac_afr_xy":4421,"ac_ami":160,"ac_ami_xx":78,"ac_ami_xy":82,"ac_amr":3386,"ac_amr_xx":1512,"ac_amr_xy":1874,"ac_asj":1059,"ac_asj_xx":567,"ac_asj_xy":492,"ac_eas":2035,"ac_eas_xx":892,"ac_eas_xy":1143,"ac_fin":3311,"ac_fin_xx":767,"ac_fin_xy":2544,"ac_mid":92,"ac_mid_xx":46,"ac_mid_xy":46,"ac_nfe":21217,"ac_nfe_xx":12248,"ac_nfe_xy":8969,"ac_oth":572,"ac_oth_xx":283,"ac_oth_xy":289,"ac_sas":1399,"ac_sas_xx":323,"ac_sas_xy":1076,"ac_xx":21735,"ac_xy":20936},"af":{"af":0.281386,"af_afr":0.228693,"af_afr_xx":0.22766,"af_afr_xy":0.229877,"af_ami":0.176211,"af_ami_xx":0.166667,"af_ami_xy":0.186364,"af_amr":0.22212,"af_amr_xx":0.223075,"af_amr_xy":0.221356,"af_asj":0.305716,"af_asj_xx":0.303533,"af_asj_xy":0.308271,"af_eas":0.394533,"af_eas_xx":0.393645,"af_eas_xy":0.395228,"af_fin":0.314973,"af_fin_xx":0.299142,"af_fin_xy":0.320081,"af_mid":0.294872,"af_mid_xx":0.283951,"af_mid_xy":0.306667,"af_nfe":0.312585,"af_nfe_xx":0.311781,"af_nfe_xy":0.313689,"af_oth":0.274736,"af_oth_xx":0.275828,"af_oth_xy":0.273674,"af_sas":0.290732,"af_sas_xx":0.279412,"af_sas_xy":0.294311,"af_xx":0.280025,"af_xy":0.282812},"alleles":"C","alt":"C","an":{"an":151646,"an_afr":41278,"an_afr_xx":22046,"an_afr_xy":19232,"an_ami":908,"an_ami_xx":468,"an_ami_xy":440,"an_amr":15244,"an_amr_xx":6778,"an_amr_xy":8466,"an_asj":3464,"an_asj_xx":1868,"an_asj_xy":1596,"an_eas":5158,"an_eas_xx":2266,"an_eas_xy":2892,"an_fin":10512,"an_fin_xx":2564,"an_fin_xy":7948,"an_mid":312,"an_mid_xx":162,"an_mid_xy":150,"an_nfe":67876,"an_nfe_xx":39284,"an_nfe_xy":28592,"an_oth":2082,"an_oth_xx":1026,"an_oth_xy":1056,"an_sas":4812,"an_sas_xx":1156,"an_sas_xy":3656,"an_xx":77618,"an_xy":74028},"as_fs":1.44649e-15,"as_mq":{"as_mq":59.9957,"as_mqranksum":-0.026},"as_pab_max":1.0,"as_qd":23.4371,"as_readposranksum":0.038,"as_sor":0.691025,"as_vqslod":19.8138,"chrom":"13","hom":{"hom":6128,"hom_afr":1068,"hom_afr_xx":560,"hom_afr_xy":508,"hom_ami":8,"hom_ami_xx":7,"hom_ami_xy":1,"hom_amr":378,"hom_amr_xx":172,"hom_amr_xy":206,"hom_asj":169,"hom_asj_xx":94,"hom_asj_xy":75,"hom_eas":384,"hom_eas_xx":176,"hom_eas_xy":208,"hom_fin":512,"hom_fin_xx":106,"hom_fin_xy":406,"hom_mid":8,"hom_mid_xx":4,"hom_mid_xy":4,"hom_nfe":3292,"hom_nfe_xx":1875,"hom_nfe_xy":1417,"hom_oth":92,"hom_oth_xx":42,"hom_oth_xy":50,"hom_sas":217,"hom_sas_xx":43,"hom_sas_xy":174,"hom_xx":3079,"hom_xy":3049},"inbreedingcoeff":0.0128472,"pos":32341273,"ref":"CAATT","rsid":"rs11571661","type":"del"},"hg38":{"end":32341277,"start":32341274},"observed":true,"snpeff":{"_license":"http://bit.ly/2suyRKt","ann":{"effect":"intron_variant","feature_id":"NM_000059.3","feature_type":"transcript","gene_id":"BRCA2","genename":"BRCA2","hgvs_c":"c.6841+80_6841+83del","putative_impact":"MODIFIER","rank":"11","total":"26","transcript_biotype":"protein_coding"}},"vcf":{"alt":"C","position":"32341273","ref":"CAATT"}}