rs80357946

minus

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

Make rs80357946(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43047670

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357946
ClinGen	rs80357946
ebi	rs80357946
HLI	rs80357946
Exac	rs80357946
Varsome	rs80357946
Map	rs80357946
PheGenI	rs80357946
hapmap	rs80357946
1000 genomes	rs80357946
hgdp	rs80357946
ensembl	rs80357946
gopubmed	rs80357946
geneview	rs80357946
scholar	rs80357946
google	rs80357946
pharmgkb	rs80357946
gwascentral	rs80357946
openSNP	rs80357946
23andMe	rs80357946
23andMe all	rs80357946
SNP Nexus
SNPshot	rs80357946
SNPdbe	rs80357946
MSV3d	rs80357946
GWAS Ctlg	rs80357946

Max Magnitude

6

rs80357946, also known as 5559delG, c.5440_5440delG and p.Ala1814Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357946(-;-)
Alt	rs80357946(-;-)
Reference	Rs80357946(G;G)
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.41199687delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048995.2, RCV000112655.2,