rs80358452

Orientation

plus

Stabilized

plus

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

Make rs80358452(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333148

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358452
dbSNP (old)	rs80358452
ClinGen	rs80358452
ebi	rs80358452
HLI	rs80358452
Exac	rs80358452
Gnomad	rs80358452
Varsome	rs80358452
Map	rs80358452
PheGenI	rs80358452
Biobank	rs80358452
1000 genomes	rs80358452
hgdp	rs80358452
ensembl	rs80358452
gopubmed	rs80358452
geneview	rs80358452
scholar	rs80358452
google	rs80358452
pharmgkb	rs80358452
gwascentral	rs80358452
openSNP	rs80358452
23andMe	rs80358452
23andMe all	rs80358452
SNP Nexus
SNPshot	rs80358452
SNPdbe	rs80358452
MSV3d	rs80358452
GWAS Ctlg	rs80358452

Max Magnitude

6

rs80358452, also known as L557X, c.1670T>G and p.Leu557Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358452(G;G)
Alt	rs80358452(G;G)
Reference	Rs80358452(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32907285T>G
CLNSRC	ClinVar
CLNACC	RCV000043857.4, RCV000112952.3, RCV000212212.2, RCV000217402.1,