rs80357922

minus

Geno	Mag	Summary
(-;C)	6	BRCA1 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar

Make rs80357922(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093535

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357922
dbSNP (classic)	rs80357922
ClinGen	rs80357922
ebi	rs80357922
HLI	rs80357922
Exac	rs80357922
Gnomad	rs80357922
Varsome	rs80357922
LitVar	rs80357922
Map	rs80357922
PheGenI	rs80357922
Biobank	rs80357922
1000 genomes	rs80357922
hgdp	rs80357922
ensembl	rs80357922
geneview	rs80357922
scholar	rs80357922
google	rs80357922
pharmgkb	rs80357922
gwascentral	rs80357922
openSNP	rs80357922
23andMe	rs80357922
SNPshot	rs80357922
SNPdbe	rs80357922
MSV3d	rs80357922
GWAS Ctlg	rs80357922

Max Magnitude

6

rs80357922, also known as 2115delC, c.1996_1996delC and p.Leu666Tyrfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357922(-;-)
Alt	rs80357922(-;-)
Reference	Rs80357922(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41245552delG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047673.2, RCV000111747.3,