rs80359317

plus

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

Make rs80359317(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336381

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359317
dbSNP (classic)	rs80359317
ClinGen	rs80359317
ebi	rs80359317
HLI	rs80359317
Exac	rs80359317
Gnomad	rs80359317
Varsome	rs80359317
LitVar	rs80359317
Map	rs80359317
PheGenI	rs80359317
Biobank	rs80359317
1000 genomes	rs80359317
hgdp	rs80359317
ensembl	rs80359317
geneview	rs80359317
scholar	rs80359317
google	rs80359317
pharmgkb	rs80359317
gwascentral	rs80359317
openSNP	rs80359317
23andMe	rs80359317
SNPshot	rs80359317
SNPdbe	rs80359317
MSV3d	rs80359317
GWAS Ctlg	rs80359317

Max Magnitude

6

rs80359317, also known as 2254delT, c.2026_2026delT and p.Cys676Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359317(-;-)
Alt	rs80359317(-;-)
Reference	Rs80359317(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.32910518delT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043936.2, RCV000113007.3,