rs80359099

Orientation

plus

Stabilized

plus

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

Make rs80359099(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32370555

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359099
dbSNP (classic)	rs80359099
ClinGen	rs80359099
ebi	rs80359099
HLI	rs80359099
Exac	rs80359099
Gnomad	rs80359099
Varsome	rs80359099
LitVar	rs80359099
Map	rs80359099
PheGenI	rs80359099
Biobank	rs80359099
1000 genomes	rs80359099
hgdp	rs80359099
ensembl	rs80359099
geneview	rs80359099
scholar	rs80359099
google	rs80359099
pharmgkb	rs80359099
gwascentral	rs80359099
openSNP	rs80359099
23andMe	rs80359099
SNPshot	rs80359099
SNPdbe	rs80359099
MSV3d	rs80359099
GWAS Ctlg	rs80359099

Max Magnitude

6

rs80359099, also known as Q2829X, c.8485C>T and p.Gln2829Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359099(T;T)
Alt	rs80359099(T;T)
Reference	Rs80359099(C;C)
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.32944692C>T
CLNSRC	ClinVar
CLNACC	RCV000045531.2, RCV000113942.1,