rs80359118

Orientation

plus

Stabilized

plus

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

Make rs80359118(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32371062

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359118
dbSNP (classic)	rs80359118
ClinGen	rs80359118
ebi	rs80359118
HLI	rs80359118
Exac	rs80359118
Gnomad	rs80359118
Varsome	rs80359118
LitVar	rs80359118
Map	rs80359118
PheGenI	rs80359118
Biobank	rs80359118
1000 genomes	rs80359118
hgdp	rs80359118
ensembl	rs80359118
geneview	rs80359118
scholar	rs80359118
google	rs80359118
pharmgkb	rs80359118
gwascentral	rs80359118
openSNP	rs80359118
23andMe	rs80359118
SNPshot	rs80359118
SNPdbe	rs80359118
MSV3d	rs80359118
GWAS Ctlg	rs80359118

Max Magnitude

6

rs80359118, also known as L2865X, c.8594T>A and p.Leu2865Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359118(A;A)
Alt	rs80359118(A;A)
Reference	Rs80359118(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32945199T>A
CLNSRC	ClinVar
CLNACC	RCV000045569.2, RCV000113968.2,