rs80359534

plus

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

Make rs80359534(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340118

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359534
dbSNP (classic)	rs80359534
ClinGen	rs80359534
ebi	rs80359534
HLI	rs80359534
Exac	rs80359534
Gnomad	rs80359534
Varsome	rs80359534
LitVar	rs80359534
Map	rs80359534
PheGenI	rs80359534
Biobank	rs80359534
1000 genomes	rs80359534
hgdp	rs80359534
ensembl	rs80359534
geneview	rs80359534
scholar	rs80359534
google	rs80359534
pharmgkb	rs80359534
gwascentral	rs80359534
openSNP	rs80359534
23andMe	rs80359534
SNPshot	rs80359534
SNPdbe	rs80359534
MSV3d	rs80359534
GWAS Ctlg	rs80359534

Max Magnitude

6

rs80359534, also known as 5991insT, c.5763_5764insT and p.Phe1921_Ala1922?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359534(T;T)
Alt	rs80359534(T;T)
Reference	Rs80359534(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32914255dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044747.2, RCV000113479.3,