The BRCA1 gene homepage

All records describing functional studies of specific variants. BRCA1 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
General information
Gene symbol BRCA1
Gene name breast cancer 1, early onset
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference LRG_292
Transcript reference NM_007294.3
Exon/intron information NM_007294.3 exon/intron table
Associated with diseases BROVCA1, cancer, breast, cancer, breast, FANCS, FANCS, PNCA4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Maaike Vreeswijk and Johan den Dunnen
Total number of public variants reported 36443
Unique public DNA variants reported 6024
Individuals with public variants 235205
Hidden variants 1762
Notes All records describing functional studies of specific variants.
BRCA1 variants classified by the ENIGMA consortium. We gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019).
Date created May 03, 2013
Date last updated November 30, 2023
Version BRCA1:231130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_007294.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 1100
Entrez Gene 672
PubMed articles BRCA1
OMIM - Gene 113705
OMIM - Diseases BROVCA1 (cancer, breast-ovarian, familial, susceptibility to, type 1 (BROVCA-1))
cancer, breast (cancer, breast, susceptibility)
FANCS (Fanconi anemia, complementation group S)
PNCA4 (cancer, pancreatic, susceptibility to, type 4 (PNCA-4))
GeneCards BRCA1
GeneTests BRCA1
Orphanet BRCA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00003478 17 transcript variant 1 NM_007294.3 NP_009225.1 36443

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.