rs80359731

plus

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

Make rs80359731(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379474

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359731
dbSNP (classic)	rs80359731
ClinGen	rs80359731
ebi	rs80359731
HLI	rs80359731
Exac	rs80359731
Gnomad	rs80359731
Varsome	rs80359731
LitVar	rs80359731
Map	rs80359731
PheGenI	rs80359731
Biobank	rs80359731
1000 genomes	rs80359731
hgdp	rs80359731
ensembl	rs80359731
geneview	rs80359731
scholar	rs80359731
google	rs80359731
pharmgkb	rs80359731
gwascentral	rs80359731
openSNP	rs80359731
23andMe	rs80359731
SNPshot	rs80359731
SNPdbe	rs80359731
MSV3d	rs80359731
GWAS Ctlg	rs80359731

Max Magnitude

6

rs80359731, also known as 9140delA, c.8912_8912delA and p.Lys2971Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359731(-;-)
Alt	rs80359731(-;-)
Reference	Rs80359731(A;A)
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.32953611delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045652.2, RCV000114013.2,