rs80359462

plus

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

Make rs80359462(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338993

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359462
dbSNP (classic)	rs80359462
ClinGen	rs80359462
ebi	rs80359462
HLI	rs80359462
Exac	rs80359462
Gnomad	rs80359462
Varsome	rs80359462
LitVar	rs80359462
Map	rs80359462
PheGenI	rs80359462
Biobank	rs80359462
1000 genomes	rs80359462
hgdp	rs80359462
ensembl	rs80359462
geneview	rs80359462
scholar	rs80359462
google	rs80359462
pharmgkb	rs80359462
gwascentral	rs80359462
openSNP	rs80359462
23andMe	rs80359462
SNPshot	rs80359462
SNPdbe	rs80359462
MSV3d	rs80359462
GWAS Ctlg	rs80359462

Max Magnitude

6

rs80359462, also known as 4866delT, c.4638_4638delT and p.Phe1546Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359462(-;-)
Alt	rs80359462(-;-)
Reference	Rs80359462(T;T)
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.32913130delT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031496.7, RCV000044457.5, RCV000163113.2, RCV000255077.1,