rs80358999

Orientation

plus

Stabilized

plus

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

Make rs80358999(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32357862

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358999
dbSNP (classic)	rs80358999
ClinGen	rs80358999
ebi	rs80358999
HLI	rs80358999
Exac	rs80358999
Gnomad	rs80358999
Varsome	rs80358999
LitVar	rs80358999
Map	rs80358999
PheGenI	rs80358999
Biobank	rs80358999
1000 genomes	rs80358999
hgdp	rs80358999
ensembl	rs80358999
geneview	rs80358999
scholar	rs80358999
google	rs80358999
pharmgkb	rs80358999
gwascentral	rs80358999
openSNP	rs80358999
23andMe	rs80358999
SNPshot	rs80358999
SNPdbe	rs80358999
MSV3d	rs80358999
GWAS Ctlg	rs80358999

Max Magnitude

6

rs80358999, also known as Q2580X, c.7738C>T and p.Gln2580Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358999(T;T)
Alt	rs80358999(T;T)
Reference	Rs80358999(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.32931999C>T
CLNSRC	ClinVar
CLNACC	RCV000045297.2, RCV000113809.3,