rs80358946

Orientation

plus

Stabilized

plus

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

Make rs80358946(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32355033

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358946
dbSNP (classic)	rs80358946
ClinGen	rs80358946
ebi	rs80358946
HLI	rs80358946
Exac	rs80358946
Gnomad	rs80358946
Varsome	rs80358946
LitVar	rs80358946
Map	rs80358946
PheGenI	rs80358946
Biobank	rs80358946
1000 genomes	rs80358946
hgdp	rs80358946
ensembl	rs80358946
geneview	rs80358946
scholar	rs80358946
google	rs80358946
pharmgkb	rs80358946
gwascentral	rs80358946
openSNP	rs80358946
23andMe	rs80358946
SNPshot	rs80358946
SNPdbe	rs80358946
MSV3d	rs80358946
GWAS Ctlg	rs80358946

Max Magnitude

6

rs80358946, also known as R2394X, c.7180A>T and p.Arg2394Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358946(T;T)
Alt	rs80358946(T;T)
Reference	Rs80358946(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32929170A>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000045156.3, RCV000077398.5, RCV000131033.3,