rs80359517

plus

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

Make rs80359517(T;T)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32339847

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359517
dbSNP (classic)	rs80359517
ClinGen	rs80359517
ebi	rs80359517
HLI	rs80359517
Exac	rs80359517
Gnomad	rs80359517
Varsome	rs80359517
LitVar	rs80359517
Map	rs80359517
PheGenI	rs80359517
Biobank	rs80359517
1000 genomes	rs80359517
hgdp	rs80359517
ensembl	rs80359517
geneview	rs80359517
scholar	rs80359517
google	rs80359517
pharmgkb	rs80359517
gwascentral	rs80359517
openSNP	rs80359517
23andMe	rs80359517
SNPshot	rs80359517
SNPdbe	rs80359517
MSV3d	rs80359517
GWAS Ctlg	rs80359517

Max Magnitude

6

rs80359517, also known as 5720insT, c.5492_5493insT and p.Ile1831?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359517(T;T)
Alt	rs80359517(T;T)
Reference	Rs80359517(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913984dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000113439.2,