rs80357991

minus

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

Make rs80357991(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092532

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357991
dbSNP (classic)	rs80357991
ClinGen	rs80357991
ebi	rs80357991
HLI	rs80357991
Exac	rs80357991
Gnomad	rs80357991
Varsome	rs80357991
LitVar	rs80357991
Map	rs80357991
PheGenI	rs80357991
Biobank	rs80357991
1000 genomes	rs80357991
hgdp	rs80357991
ensembl	rs80357991
geneview	rs80357991
scholar	rs80357991
google	rs80357991
pharmgkb	rs80357991
gwascentral	rs80357991
openSNP	rs80357991
23andMe	rs80357991
SNPshot	rs80357991
SNPdbe	rs80357991
MSV3d	rs80357991
GWAS Ctlg	rs80357991

Max Magnitude

6

rs80357991, also known as 3118delA, c.2999_2999delA and p.Glu1000Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357991(-;-)
Alt	rs80357991(-;-)
Reference	Rs80357991(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41244549delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000048036.3, RCV000083193.5, RCV000479376.1,