rs80359443

plus

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

Make rs80359443(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338694

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359443
dbSNP (classic)	rs80359443
ClinGen	rs80359443
ebi	rs80359443
HLI	rs80359443
Exac	rs80359443
Gnomad	rs80359443
Varsome	rs80359443
LitVar	rs80359443
Map	rs80359443
PheGenI	rs80359443
Biobank	rs80359443
1000 genomes	rs80359443
hgdp	rs80359443
ensembl	rs80359443
geneview	rs80359443
scholar	rs80359443
google	rs80359443
pharmgkb	rs80359443
gwascentral	rs80359443
openSNP	rs80359443
23andMe	rs80359443
SNPshot	rs80359443
SNPdbe	rs80359443
MSV3d	rs80359443
GWAS Ctlg	rs80359443

Max Magnitude

6

rs80359443, also known as 4567delG, c.4339_4339delG and p.Val1447Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359443(-;-)
Alt	rs80359443(-;-)
Reference	Rs80359443(G;G)
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.32912831delG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044396.2, RCV000113297.2,