rs80359503

plus

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

Make rs80359503(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339645

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359503
dbSNP (classic)	rs80359503
ClinGen	rs80359503
ebi	rs80359503
HLI	rs80359503
Exac	rs80359503
Gnomad	rs80359503
Varsome	rs80359503
LitVar	rs80359503
Map	rs80359503
PheGenI	rs80359503
Biobank	rs80359503
1000 genomes	rs80359503
hgdp	rs80359503
ensembl	rs80359503
geneview	rs80359503
scholar	rs80359503
google	rs80359503
pharmgkb	rs80359503
gwascentral	rs80359503
openSNP	rs80359503
23andMe	rs80359503
SNPshot	rs80359503
SNPdbe	rs80359503
MSV3d	rs80359503
GWAS Ctlg	rs80359503

Max Magnitude

6

rs80359503, also known as 5518delTC, c.5290_5291delTC and p.Ser1764Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

23andMe name: i5009106

ClinVar
Risk	rs80359503(-;-)
Alt	rs80359503(-;-)
Reference	Rs80359503(TC;TC)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32913782_32913783delTC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031537.6, RCV000044629.4, RCV000215243.1, RCV000481345.1,