rs80359211

Orientation

plus

Stabilized

plus

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

Make rs80359211(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32394812

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359211
dbSNP (classic)	rs80359211
ClinGen	rs80359211
ebi	rs80359211
HLI	rs80359211
Exac	rs80359211
Gnomad	rs80359211
Varsome	rs80359211
LitVar	rs80359211
Map	rs80359211
PheGenI	rs80359211
Biobank	rs80359211
1000 genomes	rs80359211
hgdp	rs80359211
ensembl	rs80359211
geneview	rs80359211
scholar	rs80359211
google	rs80359211
pharmgkb	rs80359211
gwascentral	rs80359211
openSNP	rs80359211
23andMe	rs80359211
SNPshot	rs80359211
SNPdbe	rs80359211
MSV3d	rs80359211
GWAS Ctlg	rs80359211

Max Magnitude

6

rs80359211, also known as W3127X, c.9380G>A and p.Trp3127Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359211(A;A)
Alt	rs80359211(A;A)
Reference	Rs80359211(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32968949G>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031818.6, RCV000045806.2, RCV000131047.2, RCV000485069.1,