rs80359712

plus

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

Make rs80359712(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32370969

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359712
dbSNP (classic)	rs80359712
ClinGen	rs80359712
ebi	rs80359712
HLI	rs80359712
Exac	rs80359712
Gnomad	rs80359712
Varsome	rs80359712
LitVar	rs80359712
Map	rs80359712
PheGenI	rs80359712
Biobank	rs80359712
1000 genomes	rs80359712
hgdp	rs80359712
ensembl	rs80359712
geneview	rs80359712
scholar	rs80359712
google	rs80359712
pharmgkb	rs80359712
gwascentral	rs80359712
openSNP	rs80359712
23andMe	rs80359712
SNPshot	rs80359712
SNPdbe	rs80359712
MSV3d	rs80359712
GWAS Ctlg	rs80359712

Max Magnitude

6

rs80359712, also known as 8729delC, c.8501_8501delC and p.Thr2834Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359712(-;-)
Alt	rs80359712(-;-)
Reference	Rs80359712(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32945106delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031749.6, RCV000045539.2,