rs80359468

plus

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

Make rs80359468(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339184

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359468
dbSNP (classic)	rs80359468
ClinGen	rs80359468
ebi	rs80359468
HLI	rs80359468
Exac	rs80359468
Gnomad	rs80359468
Varsome	rs80359468
LitVar	rs80359468
Map	rs80359468
PheGenI	rs80359468
Biobank	rs80359468
1000 genomes	rs80359468
hgdp	rs80359468
ensembl	rs80359468
geneview	rs80359468
scholar	rs80359468
google	rs80359468
pharmgkb	rs80359468
gwascentral	rs80359468
openSNP	rs80359468
23andMe	rs80359468
SNPshot	rs80359468
SNPdbe	rs80359468
MSV3d	rs80359468
GWAS Ctlg	rs80359468

Max Magnitude

6

rs80359468, also known as 5057delTG, c.4829_4830delTG and p.Val1610Glyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359468(-;-)
Alt	rs80359468(-;-)
Reference	Rs80359468(TG;TG)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32913321_32913322delTG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044500.4, RCV000077338.8, RCV000162922.2, RCV000217237.2,