rs80359490

plus

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

Make rs80359490(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339519

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359490
dbSNP (classic)	rs80359490
ClinGen	rs80359490
ebi	rs80359490
HLI	rs80359490
Exac	rs80359490
Gnomad	rs80359490
Varsome	rs80359490
LitVar	rs80359490
Map	rs80359490
PheGenI	rs80359490
Biobank	rs80359490
1000 genomes	rs80359490
hgdp	rs80359490
ensembl	rs80359490
geneview	rs80359490
scholar	rs80359490
google	rs80359490
pharmgkb	rs80359490
gwascentral	rs80359490
openSNP	rs80359490
23andMe	rs80359490
SNPshot	rs80359490
SNPdbe	rs80359490
MSV3d	rs80359490
GWAS Ctlg	rs80359490

Max Magnitude

6

rs80359490, also known as 5392delAG, c.5164_5165delAG and p.Ser1722Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359490(-;-)
Alt	rs80359490(-;-)
Reference	Rs80359490(AG;AG)
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.32913656_32913657delAG
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044579.3, RCV000077346.6, RCV000216136.1, RCV000482731.1,