rs80359492

plus

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

Make rs80359492(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32326500

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359492
dbSNP (classic)	rs80359492
ClinGen	rs80359492
ebi	rs80359492
HLI	rs80359492
Exac	rs80359492
Gnomad	rs80359492
Varsome	rs80359492
LitVar	rs80359492
Map	rs80359492
PheGenI	rs80359492
Biobank	rs80359492
1000 genomes	rs80359492
hgdp	rs80359492
ensembl	rs80359492
geneview	rs80359492
scholar	rs80359492
google	rs80359492
pharmgkb	rs80359492
gwascentral	rs80359492
openSNP	rs80359492
23andMe	rs80359492
SNPshot	rs80359492
SNPdbe	rs80359492
MSV3d	rs80359492
GWAS Ctlg	rs80359492

Max Magnitude

6

rs80359492, also known as 746delG, c.518_518delG and p.Gly173Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359492(-;-)
Alt	rs80359492(-;-)
Reference	Rs80359492(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32900637delG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031530.6, RCV000044599.3, RCV000222906.1, RCV000483634.1,