rs80357812

minus

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

Make rs80357812(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092765

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357812
dbSNP (classic)	rs80357812
ClinGen	rs80357812
ebi	rs80357812
HLI	rs80357812
Exac	rs80357812
Gnomad	rs80357812
Varsome	rs80357812
LitVar	rs80357812
Map	rs80357812
PheGenI	rs80357812
Biobank	rs80357812
1000 genomes	rs80357812
hgdp	rs80357812
ensembl	rs80357812
geneview	rs80357812
scholar	rs80357812
google	rs80357812
pharmgkb	rs80357812
gwascentral	rs80357812
openSNP	rs80357812
23andMe	rs80357812
SNPshot	rs80357812
SNPdbe	rs80357812
MSV3d	rs80357812
GWAS Ctlg	rs80357812

Max Magnitude

6

rs80357812, also known as c.2766delA, 2885delA, c.2766_2766delA and p.Thr922=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357812(-;-)
Alt	rs80357812(-;-)
Reference	Rs80357812(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41244782delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047965.3, RCV000083189.6, RCV000213211.1, RCV000236621.1,