rs80359121

Orientation

plus

Stabilized

plus

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

Make rs80359121(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32371097

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359121
dbSNP (classic)	rs80359121
ClinGen	rs80359121
ebi	rs80359121
HLI	rs80359121
Exac	rs80359121
Gnomad	rs80359121
Varsome	rs80359121
LitVar	rs80359121
Map	rs80359121
PheGenI	rs80359121
Biobank	rs80359121
1000 genomes	rs80359121
hgdp	rs80359121
ensembl	rs80359121
geneview	rs80359121
scholar	rs80359121
google	rs80359121
pharmgkb	rs80359121
gwascentral	rs80359121
openSNP	rs80359121
23andMe	rs80359121
SNPshot	rs80359121
SNPdbe	rs80359121
MSV3d	rs80359121
GWAS Ctlg	rs80359121

Max Magnitude

6

rs80359121, also known as E2877X, c.8629G>T and p.Glu2877Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359121(T;T)
Alt	rs80359121(T;T)
Reference	Rs80359121(G;G)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32945234G>T
CLNSRC	ClinVar
CLNACC	RCV000045575.2, RCV000113970.3, RCV000218194.1,