rs80359148

Orientation

plus

Stabilized

plus

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

Make rs80359148(A;A)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32379765

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359148
dbSNP (classic)	rs80359148
ClinGen	rs80359148
ebi	rs80359148
HLI	rs80359148
Exac	rs80359148
Gnomad	rs80359148
Varsome	rs80359148
LitVar	rs80359148
Map	rs80359148
PheGenI	rs80359148
Biobank	rs80359148
1000 genomes	rs80359148
hgdp	rs80359148
ensembl	rs80359148
geneview	rs80359148
scholar	rs80359148
google	rs80359148
pharmgkb	rs80359148
gwascentral	rs80359148
openSNP	rs80359148
23andMe	rs80359148
SNPshot	rs80359148
SNPdbe	rs80359148
MSV3d	rs80359148
GWAS Ctlg	rs80359148

Max Magnitude

6

rs80359148, also known as W2990X, c.8969G>A and p.Trp2990Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359148(A;A)
Alt	rs80359148(A;A)
Reference	Rs80359148(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32953902G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000114025.3, RCV000131050.3, RCV000425086.1,