rs80359003

Orientation

plus

Stabilized

plus

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

Make rs80359003(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32357881

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359003
dbSNP (classic)	rs80359003
ClinGen	rs80359003
ebi	rs80359003
HLI	rs80359003
Exac	rs80359003
Gnomad	rs80359003
Varsome	rs80359003
LitVar	rs80359003
Map	rs80359003
PheGenI	rs80359003
Biobank	rs80359003
1000 genomes	rs80359003
hgdp	rs80359003
ensembl	rs80359003
geneview	rs80359003
scholar	rs80359003
google	rs80359003
pharmgkb	rs80359003
gwascentral	rs80359003
openSNP	rs80359003
23andMe	rs80359003
SNPshot	rs80359003
SNPdbe	rs80359003
MSV3d	rs80359003
GWAS Ctlg	rs80359003

Max Magnitude

6

rs80359003, also known as W2586X, c.7757G>A and p.Trp2586Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359003(A;A)
Alt	rs80359003(A;A)
Reference	Rs80359003(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32932018G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000045302.5, RCV000077410.5, RCV000131087.3, RCV000215688.2,