rs80359349

plus

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

Make rs80359349(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337153

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359349
dbSNP (classic)	rs80359349
ClinGen	rs80359349
ebi	rs80359349
HLI	rs80359349
Exac	rs80359349
Gnomad	rs80359349
Varsome	rs80359349
LitVar	rs80359349
Map	rs80359349
PheGenI	rs80359349
Biobank	rs80359349
1000 genomes	rs80359349
hgdp	rs80359349
ensembl	rs80359349
geneview	rs80359349
scholar	rs80359349
google	rs80359349
pharmgkb	rs80359349
gwascentral	rs80359349
openSNP	rs80359349
23andMe	rs80359349
SNPshot	rs80359349
SNPdbe	rs80359349
MSV3d	rs80359349
GWAS Ctlg	rs80359349

Max Magnitude

6

rs80359349, also known as 3026delC, c.2798_2798delC and p.Thr933Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359349(-;-)
Alt	rs80359349(-;-)
Reference	Rs80359349(C;C)
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.32911290delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044060.2, RCV000113093.2,