rs80359513

plus

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

Make rs80359513(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339809

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359513
dbSNP (classic)	rs80359513
ClinGen	rs80359513
ebi	rs80359513
HLI	rs80359513
Exac	rs80359513
Gnomad	rs80359513
Varsome	rs80359513
LitVar	rs80359513
Map	rs80359513
PheGenI	rs80359513
Biobank	rs80359513
1000 genomes	rs80359513
hgdp	rs80359513
ensembl	rs80359513
geneview	rs80359513
scholar	rs80359513
google	rs80359513
pharmgkb	rs80359513
gwascentral	rs80359513
openSNP	rs80359513
23andMe	rs80359513
SNPshot	rs80359513
SNPdbe	rs80359513
MSV3d	rs80359513
GWAS Ctlg	rs80359513

Max Magnitude

6

rs80359513, also known as c.5454delA, 5682delA, c.5454_5454delA and p.Ser1818=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359513(-;-)
Alt	rs80359513(-;-)
Reference	Rs80359513(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32913946delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044662.2, RCV000113431.2, RCV000132083.3,