rs80359471

plus

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

Make rs80359471(T;T)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32339259

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359471
dbSNP (classic)	rs80359471
ClinGen	rs80359471
ebi	rs80359471
HLI	rs80359471
Exac	rs80359471
Gnomad	rs80359471
Varsome	rs80359471
LitVar	rs80359471
Map	rs80359471
PheGenI	rs80359471
Biobank	rs80359471
1000 genomes	rs80359471
hgdp	rs80359471
ensembl	rs80359471
geneview	rs80359471
scholar	rs80359471
google	rs80359471
pharmgkb	rs80359471
gwascentral	rs80359471
openSNP	rs80359471
23andMe	rs80359471
SNPshot	rs80359471
SNPdbe	rs80359471
MSV3d	rs80359471
GWAS Ctlg	rs80359471

Max Magnitude

6

rs80359471, also known as 5132insT, c.4904_4905insT and p.Leu1635?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359471(T;T)
Alt	rs80359471(T;T)
Reference	Rs80359471(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913396dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000113358.3,