rs80358552

Orientation

plus

Stabilized

plus

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

Make rs80358552(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337431

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358552
dbSNP (classic)	rs80358552
ClinGen	rs80358552
ebi	rs80358552
HLI	rs80358552
Exac	rs80358552
Gnomad	rs80358552
Varsome	rs80358552
LitVar	rs80358552
Map	rs80358552
PheGenI	rs80358552
Biobank	rs80358552
1000 genomes	rs80358552
hgdp	rs80358552
ensembl	rs80358552
geneview	rs80358552
scholar	rs80358552
google	rs80358552
pharmgkb	rs80358552
gwascentral	rs80358552
openSNP	rs80358552
23andMe	rs80358552
SNPshot	rs80358552
SNPdbe	rs80358552
MSV3d	rs80358552
GWAS Ctlg	rs80358552

Max Magnitude

6

rs80358552, also known as K1026X, c.3076A>T and p.Lys1026Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358552(T;T)
Alt	rs80358552(T;T)
Reference	Rs80358552(A;A)
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.32911568A>T
CLNSRC	ClinVar
CLNACC	RCV000044114.2, RCV000113132.3,