rs80358901

Orientation

plus

Stabilized

plus

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

Make rs80358901(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32341123

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358901
dbSNP (classic)	rs80358901
ClinGen	rs80358901
ebi	rs80358901
HLI	rs80358901
Exac	rs80358901
Gnomad	rs80358901
Varsome	rs80358901
LitVar	rs80358901
Map	rs80358901
PheGenI	rs80358901
Biobank	rs80358901
1000 genomes	rs80358901
hgdp	rs80358901
ensembl	rs80358901
geneview	rs80358901
scholar	rs80358901
google	rs80358901
pharmgkb	rs80358901
gwascentral	rs80358901
openSNP	rs80358901
23andMe	rs80358901
SNPshot	rs80358901
SNPdbe	rs80358901
MSV3d	rs80358901
GWAS Ctlg	rs80358901

Max Magnitude

6

rs80358901, also known as C2256X, c.6768T>A and p.Cys2256Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358901(A;A)
Alt	rs80358901(A;A)
Reference	Rs80358901(T;T)
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.32915260T>A
CLNSRC	ClinVar
CLNACC	RCV000045044.2, RCV000113641.3,