rs80358717

Orientation

plus

Stabilized

plus

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

Make rs80358717(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32326257

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358717
dbSNP (classic)	rs80358717
ClinGen	rs80358717
ebi	rs80358717
HLI	rs80358717
Exac	rs80358717
Gnomad	rs80358717
Varsome	rs80358717
LitVar	rs80358717
Map	rs80358717
PheGenI	rs80358717
Biobank	rs80358717
1000 genomes	rs80358717
hgdp	rs80358717
ensembl	rs80358717
geneview	rs80358717
scholar	rs80358717
google	rs80358717
pharmgkb	rs80358717
gwascentral	rs80358717
openSNP	rs80358717
23andMe	rs80358717
SNPshot	rs80358717
SNPdbe	rs80358717
MSV3d	rs80358717
GWAS Ctlg	rs80358717

Max Magnitude

6

rs80358717, also known as L164X, c.491T>A and p.Leu164Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358717(A;A)
Alt	rs80358717(A;A)
Reference	Rs80358717(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.32900394T>A
CLNSRC	ClinVar
CLNACC	RCV000044521.2, RCV000113680.2,