rs80357987

minus

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

Make rs80357987(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43091559

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357987
dbSNP (classic)	rs80357987
ClinGen	rs80357987
ebi	rs80357987
HLI	rs80357987
Exac	rs80357987
Gnomad	rs80357987
Varsome	rs80357987
LitVar	rs80357987
Map	rs80357987
PheGenI	rs80357987
Biobank	rs80357987
1000 genomes	rs80357987
hgdp	rs80357987
ensembl	rs80357987
geneview	rs80357987
scholar	rs80357987
google	rs80357987
pharmgkb	rs80357987
gwascentral	rs80357987
openSNP	rs80357987
23andMe	rs80357987
SNPshot	rs80357987
SNPdbe	rs80357987
MSV3d	rs80357987
GWAS Ctlg	rs80357987

Max Magnitude

6

rs80357987, also known as 4091delG, c.3972_3972delG and p.Met1324Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357987(-;-)
Alt	rs80357987(-;-)
Reference	Rs80357987(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.41243576delC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048396.2, RCV000112221.2,