List of variants in gene BRCA1 studied for Inherited breast cancer and ovarian cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)	rs80357394	0.00003
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly)	rs28897684	0.00002
NM_007294.4(BRCA1):c.213-11T>G	rs80358061	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)	rs80357287
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)	rs80357802
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)	rs62625306
NM_007294.4(BRCA1):c.4272G>C (p.Gln1424His)	rs398122684
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	rs41293455
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	rs80356885
NM_007294.4(BRCA1):c.4616_4617dup (p.Glu1540fs)
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)	rs1555581812
NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)	rs1555579627
NM_007294.4(BRCA1):c.5238C>G (p.His1746Gln)	rs786202389
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.5468-11T>A	rs2152608629
NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)	rs2154492047

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.