rs80358809

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	BRCA2 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs80358809(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32326563

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358809
dbSNP (classic)	rs80358809
ClinGen	rs80358809
ebi	rs80358809
HLI	rs80358809
Exac	rs80358809
Gnomad	rs80358809
Varsome	rs80358809
LitVar	rs80358809
Map	rs80358809
PheGenI	rs80358809
Biobank	rs80358809
1000 genomes	rs80358809
hgdp	rs80358809
ensembl	rs80358809
geneview	rs80358809
scholar	rs80358809
google	rs80358809
pharmgkb	rs80358809
gwascentral	rs80358809
openSNP	rs80358809
23andMe	rs80358809
SNPshot	rs80358809
SNPdbe	rs80358809
MSV3d	rs80358809
GWAS Ctlg	rs80358809

Max Magnitude

6

rs80358809, also known as W194X, c.581G>A and p.Trp194Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358809(A;A) rs80358809(C;C)
Alt	rs80358809(A;A) rs80358809(C;C)
Reference	Rs80358809(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32900700G>A; NC_000013.10:g.32900700G>C
CLNSRC	ClinVar
CLNACC	RCV000044763.4, RCV000077362.5, RCV000471135.1,