rs80358561

Orientation

plus

Stabilized

plus

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

Make rs80358561(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319323

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358561
dbSNP (old)	rs80358561
ClinGen	rs80358561
ebi	rs80358561
HLI	rs80358561
Exac	rs80358561
Gnomad	rs80358561
Varsome	rs80358561
Map	rs80358561
PheGenI	rs80358561
Biobank	rs80358561
1000 genomes	rs80358561
hgdp	rs80358561
ensembl	rs80358561
gopubmed	rs80358561
geneview	rs80358561
scholar	rs80358561
google	rs80358561
pharmgkb	rs80358561
gwascentral	rs80358561
openSNP	rs80358561
23andMe	rs80358561
23andMe all	rs80358561
SNP Nexus
SNPshot	rs80358561
SNPdbe	rs80358561
MSV3d	rs80358561
GWAS Ctlg	rs80358561

Max Magnitude

6

rs80358561, also known as L105X, c.314T>G and p.Leu105Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358561(G;G)
Alt	rs80358561(G;G)
Reference	Rs80358561(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32893460T>G
CLNSRC	ClinVar
CLNACC	RCV000044126.2, RCV000077293.5, RCV000219806.1,