rs80359050

Orientation

plus

Stabilized

plus

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

Make rs80359050(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363289

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359050
dbSNP (classic)	rs80359050
ClinGen	rs80359050
ebi	rs80359050
HLI	rs80359050
Exac	rs80359050
Gnomad	rs80359050
Varsome	rs80359050
LitVar	rs80359050
Map	rs80359050
PheGenI	rs80359050
Biobank	rs80359050
1000 genomes	rs80359050
hgdp	rs80359050
ensembl	rs80359050
geneview	rs80359050
scholar	rs80359050
google	rs80359050
pharmgkb	rs80359050
gwascentral	rs80359050
openSNP	rs80359050
23andMe	rs80359050
SNPshot	rs80359050
SNPdbe	rs80359050
MSV3d	rs80359050
GWAS Ctlg	rs80359050

Max Magnitude

6

rs80359050, also known as L2696X, c.8087T>A and p.Leu2696Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359050(A;A) rs80359050(G;G)
Alt	rs80359050(A;A) rs80359050(G;G)
Reference	Rs80359050(T;T)
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.32937426T>A; NC_000013.10:g.32937426T>G
CLNSRC	ClinVar
CLNACC	RCV000045418.2, RCV000113870.3, RCV000172807.1, RCV000218050.1,