rs80359499

plus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339593

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359499
dbSNP (classic)	rs80359499
ClinGen	rs80359499
ebi	rs80359499
HLI	rs80359499
Exac	rs80359499
Gnomad	rs80359499
Varsome	rs80359499
LitVar	rs80359499
Map	rs80359499
PheGenI	rs80359499
Biobank	rs80359499
1000 genomes	rs80359499
hgdp	rs80359499
ensembl	rs80359499
geneview	rs80359499
scholar	rs80359499
google	rs80359499
pharmgkb	rs80359499
gwascentral	rs80359499
openSNP	rs80359499
23andMe	rs80359499
SNPshot	rs80359499
SNPdbe	rs80359499
MSV3d	rs80359499
GWAS Ctlg	rs80359499

Max Magnitude

6

rs80359499, also known as 5466insT, c.5238_5239insT, c.5237_5238dupCT and p.Ser1746_Asn1747?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80359499(CT;CT) Rs80359499(T;T)
Alt	Rs80359499(CT;CT) Rs80359499(T;T)
Reference	Rs80359499(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32913729_32913730dupCT; NC_000013.10:g.32913730dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000225637.1, RCV000031535.8, RCV000130726.3, RCV000212240.3, RCV000257922.3,