BARD1

BRCA1 associated RING domain 1

Summary

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Known Variants2,284 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7585356	2:215,592,306	G/A	3 prime UTR variant	—
rs59457185	2:215,593,084	A/G	—	likely benign
rs5020511	2:215,593,233	T/C	—	benign
rs58253676	2:215,593,276	—	—	—
rs1378645134	2:215,593,281	C/T	—	benign
rs751500588	2:215,593,362	G/A	—	uncertain significance
rs760800175	2:215,593,388	C/G	—	uncertain significance
rs2469266636	2:215,593,392	T/C	—	uncertain significance
rs1692188075	2:215,593,400	T/C	—	uncertain significance
rs776958611	2:215,593,401	C/G	—	uncertain significance
rs786203353	2:215,593,402	A/G	—	uncertain significance
rs1692188549	2:215,593,403	G/C	—	uncertain significance
rs1692188685	2:215,593,404	C/T	—	uncertain significance
rs1553611997	2:215,593,405	T/G	—	uncertain significance
rs863224673	2:215,593,406	G/A	—	likely benign
rs2105986105	2:215,593,408	C/G	—	uncertain significance
rs907023461	2:215,593,410	A/T	—	uncertain significance
rs1553612005	2:215,593,411	G/A	—	conflicting classifications of pathogenicity
rs2469266845	2:215,593,412	A/G	—	likely benign
rs1208217643	2:215,593,413	G/A	—	uncertain significance
rs2469266893	2:215,593,414	G/C	—	uncertain significance
rs1692189937	2:215,593,415	A/G	—	likely benign
rs1559371391	2:215,593,416	A/G	—	uncertain significance
rs1241139157	2:215,593,417	G/A	—	uncertain significance
rs1266259366	2:215,593,418	C/T	—	likely benign
rs2105986144	2:215,593,419	A/T	—	uncertain significance
rs762887239	2:215,593,421	C/G	—	uncertain significance
rs868744803	2:215,593,423	C/G	—	conflicting classifications of pathogenicity
rs2469267006	2:215,593,424	A/G	—	likely benign
rs1692190854	2:215,593,425	A/C	—	uncertain significance
rs1060504197	2:215,593,427	G/A	—	likely benign
rs730881427	2:215,593,428	G/C	—	uncertain significance
rs730881409	2:215,593,430	C/G	—	uncertain significance
rs1553612018	2:215,593,431	A/G	—	uncertain significance
rs2105986191	2:215,593,433	C/T	—	likely benign
rs2105986212	2:215,593,434	A/G	—	uncertain significance
rs1434753563	2:215,593,435	C/A	—	conflicting classifications of pathogenicity
rs1692192234	2:215,593,437	C/T	—	uncertain significance
rs1692192377	2:215,593,438	A/C	—	uncertain significance
rs1692192527	2:215,593,439	G/C	—	uncertain significance
rs730881426	2:215,593,440	T/C	—	uncertain significance
rs1574701742	2:215,593,441	C/T	—	conflicting classifications of pathogenicity
rs1692192973	2:215,593,442	T/C	—	uncertain significance
rs587780030	2:215,593,443	A/G	—	conflicting classifications of pathogenicity
rs1553612026	2:215,593,444	T/C	—	uncertain significance
rs2105986287	2:215,593,445	A/G	—	likely benign
rs2105986297	2:215,593,446	A/T	—	uncertain significance
rs1262069856	2:215,593,448	C/T	—	pathogenic
rs878854008	2:215,593,450	A/G	—	uncertain significance
rs2105986338	2:215,593,451	G/A	—	likely benign
rs142155101	2:215,593,452	C/T	—	conflicting classifications of pathogenicity
rs1475472364	2:215,593,453	T/C	—	uncertain significance
rs749959440	2:215,593,454	C/T	—	conflicting classifications of pathogenicity
rs730881425	2:215,593,455	G/T	—	likely pathogenic
rs1692194979	2:215,593,456	A/G	—	uncertain significance
rs766070611	2:215,593,457	A/G	—	likely benign
rs1318628468	2:215,593,459	G/A	—	uncertain significance
rs1057523059	2:215,593,460	A/G	—	likely benign
rs1574701935	2:215,593,461	G/T	—	uncertain significance
rs863224672	2:215,593,462	C/G	—	uncertain significance
rs1064796724	2:215,593,463	C/A	—	conflicting classifications of pathogenicity
rs786202118	2:215,593,466	C/T	stop gained	pathogenic
rs1358155595	2:215,593,467	C/T	—	pathogenic
rs13389324	2:215,593,469	G/C	—	likely benign
rs1553612049	2:215,593,470	A/G	—	uncertain significance
rs876659038	2:215,593,471	C/T	—	uncertain significance
rs1446285640	2:215,593,472	T/C	—	likely benign
rs2469268066	2:215,593,473	T/G	—	uncertain significance
rs753441393	2:215,593,475	G/A	—	likely benign
rs867281641	2:215,593,476	C/A	—	uncertain significance
rs786203405	2:215,593,477	C/T	—	uncertain significance
rs1692198555	2:215,593,478	C/G	—	uncertain significance
rs755369095	2:215,593,479	T/C	—	conflicting classifications of pathogenicity
rs1692198935	2:215,593,480	G/C	—	uncertain significance
rs750001065	2:215,593,481	C/A	—	likely benign
rs587782246	2:215,593,482	C/T	—	uncertain significance
rs139785364	2:215,593,483	G/A	missense variant	uncertain significance
rs1574702229	2:215,593,484	A/C	—	likely benign
rs1553612064	2:215,593,485	A/T	—	uncertain significance
rs34677017	2:215,593,486	C/T	—	conflicting classifications of pathogenicity
rs1057520455	2:215,593,487	C/A	—	uncertain significance
rs1692200373	2:215,593,488	C/G	—	uncertain significance
rs1692200499	2:215,593,490	C/G	—	conflicting classifications of pathogenicity
rs1553612068	2:215,593,491	T/C	—	uncertain significance
rs879253880	2:215,593,492	C/A	—	pathogenic
rs2469268432	2:215,593,493	T/C	—	likely benign
rs1348871714	2:215,593,494	G/C	—	uncertain significance
rs1574702322	2:215,593,495	G/A	—	uncertain significance
rs778334836	2:215,593,496	G/A	—	likely benign
rs878854007	2:215,593,497	T/C	—	conflicting classifications of pathogenicity
rs747122703	2:215,593,499	A/T	—	likely pathogenic
rs1692201900	2:215,593,500	T/G	—	uncertain significance
rs771109295	2:215,593,501	A/C	—	conflicting classifications of pathogenicity
rs1692202278	2:215,593,502	A/C	—	uncertain significance
rs2469268634	2:215,593,503	T/C	—	likely benign
rs1553612078	2:215,593,504	T/C	—	uncertain significance
rs1395245809	2:215,593,506	C/T	—	uncertain significance
rs1553612082	2:215,593,507	A/G	—	conflicting classifications of pathogenicity
rs1064793606	2:215,593,508	C/G	—	conflicting classifications of pathogenicity
rs876659765	2:215,593,510	A/T	—	conflicting classifications of pathogenicity

Showing 100 of 2,284 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.