List of variants in gene BRCA1 reported as benign for Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=)	rs1799949	0.30810
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)	rs1060915	0.30039
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly)	rs16941	0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=)	rs16940	0.29035
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn)	rs4986850	0.05684
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	rs1799950	0.04695
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)	rs4986852	0.01109
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)	rs56082113	0.00964
NM_007294.4(BRCA1):c.5468-10C>A	rs8176316	0.00431
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)	rs1800744	0.00240
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)	rs56119278	0.00054
NM_007294.4(BRCA1):c.4484+14A>G	rs80358022	0.00036
NM_007294.4(BRCA1):c.5406+33A>T	rs80358092	0.00018
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys)	rs41286300	0.00011
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)	rs799917
NM_007294.4(BRCA1):c.441+36_441+49del	rs373413425
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)	rs1799966

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.