List of variants in gene BRCA1 reported as likely pathogenic for cancer

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)	rs80357244	0.00003
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)	rs80357084	0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)	rs80187739	0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.4(BRCA1):c.1061del (p.Asn354fs)	rs2154478354
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs)	rs2154475092
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs)	rs876659327
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)	rs80357150
NM_007294.4(BRCA1):c.2640_2643dup (p.Cys882fs)	rs2154367150
NM_007294.4(BRCA1):c.2756del (p.Pro919fs)	rs2154361062
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)	rs864622444
NM_007294.4(BRCA1):c.4159T>C (p.Ser1387Pro)	rs876658221
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg)	rs80356916
NM_007294.4(BRCA1):c.473_547+288del	rs2154527022
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)	rs80356862
NM_007294.4(BRCA1):c.4986+3G>C	rs80358023
NM_007294.4(BRCA1):c.4986+5G>A	rs397509211
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)	rs80357034
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)	rs80356993
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5194-2A>G	rs80358069
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)	rs80357227
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)	rs863224765
NM_007294.4(BRCA1):c.5333-1G>T	rs80358126
NM_007294.4(BRCA1):c.5420T>C (p.Ile1807Thr)	rs2050991229
NM_007294.4(BRCA1):c.5488G>T (p.Ala1830Ser)	rs80357393
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)	rs80356959
NM_007294.4(BRCA1):c.671-1G>T	rs80358020
NM_007294.4(BRCA1):c.953A>T (p.His318Leu)

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.