rs80359004

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	6	Possible miscall in Ancestry v2d data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(G;G)	0	common in clinvar

Make rs80359004(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32357882

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359004
dbSNP (classic)	rs80359004
ClinGen	rs80359004
ebi	rs80359004
HLI	rs80359004
Exac	rs80359004
Gnomad	rs80359004
Varsome	rs80359004
LitVar	rs80359004
Map	rs80359004
PheGenI	rs80359004
Biobank	rs80359004
1000 genomes	rs80359004
hgdp	rs80359004
ensembl	rs80359004
geneview	rs80359004
scholar	rs80359004
google	rs80359004
pharmgkb	rs80359004
gwascentral	rs80359004
openSNP	rs80359004
23andMe	rs80359004
SNPshot	rs80359004
SNPdbe	rs80359004
MSV3d	rs80359004
GWAS Ctlg	rs80359004

Max Magnitude

6

rs80359004, also known as W2586X, c.7758G>A and p.Trp2586Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359004(A;A) rs80359004(C;C)
Alt	rs80359004(A;A) rs80359004(C;C)
Reference	Rs80359004(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast not provided
Reversed	0
HGVS	NC_000013.10:g.32932019G>A
CLNSRC	ClinVar
CLNACC	RCV000031698.6, RCV000045303.2, RCV000255811.2,