rs80359347

plus

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

Make rs80359347(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337141

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359347
dbSNP (classic)	rs80359347
ClinGen	rs80359347
ebi	rs80359347
HLI	rs80359347
Exac	rs80359347
Gnomad	rs80359347
Varsome	rs80359347
LitVar	rs80359347
Map	rs80359347
PheGenI	rs80359347
Biobank	rs80359347
1000 genomes	rs80359347
hgdp	rs80359347
ensembl	rs80359347
geneview	rs80359347
scholar	rs80359347
google	rs80359347
pharmgkb	rs80359347
gwascentral	rs80359347
openSNP	rs80359347
23andMe	rs80359347
SNPshot	rs80359347
SNPdbe	rs80359347
MSV3d	rs80359347
GWAS Ctlg	rs80359347

Max Magnitude

6

rs80359347, also known as 3014insT, c.2786_2787insT and p.Leu929?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359347(T;T)
Alt	rs80359347(T;T)
Reference	Rs80359347(-;-)
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.32911278dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044057.2, RCV000077694.5,