rs80358503

Orientation

plus

Stabilized

plus

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

Make rs80358503(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32336731

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358503
dbSNP (classic)	rs80358503
ClinGen	rs80358503
ebi	rs80358503
HLI	rs80358503
Exac	rs80358503
Gnomad	rs80358503
Varsome	rs80358503
LitVar	rs80358503
Map	rs80358503
PheGenI	rs80358503
Biobank	rs80358503
1000 genomes	rs80358503
hgdp	rs80358503
ensembl	rs80358503
geneview	rs80358503
scholar	rs80358503
google	rs80358503
pharmgkb	rs80358503
gwascentral	rs80358503
openSNP	rs80358503
23andMe	rs80358503
SNPshot	rs80358503
SNPdbe	rs80358503
MSV3d	rs80358503
GWAS Ctlg	rs80358503

Max Magnitude

6

rs80358503, also known as Y792X, c.2376C>A and p.Tyr792Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358503(A;A)
Alt	rs80358503(A;A)
Reference	Rs80358503(C;C)
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.32910868C>A
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000043981.3, RCV000077277.5, RCV000131058.3,