rs80358456

Orientation

plus

Stabilized

plus

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

Make rs80358456(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333167

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358456
dbSNP (old)	rs80358456
ClinGen	rs80358456
ebi	rs80358456
HLI	rs80358456
Exac	rs80358456
Varsome	rs80358456
Map	rs80358456
PheGenI	rs80358456
Biobank	rs80358456
1000 genomes	rs80358456
hgdp	rs80358456
ensembl	rs80358456
gopubmed	rs80358456
geneview	rs80358456
scholar	rs80358456
google	rs80358456
pharmgkb	rs80358456
gwascentral	rs80358456
openSNP	rs80358456
23andMe	rs80358456
23andMe all	rs80358456
SNP Nexus
SNPshot	rs80358456
SNPdbe	rs80358456
MSV3d	rs80358456
GWAS Ctlg	rs80358456

Max Magnitude

6

rs80358456, also known as W563X, c.1689G>A and p.Trp563Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358456(A;A) rs80358456(C;C)
Alt	rs80358456(A;A) rs80358456(C;C)
Reference	Rs80358456(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32907304G>A
CLNSRC	ClinVar
CLNACC	RCV000043863.3, RCV000112960.3,