rs80358998

Orientation

plus

Stabilized

plus

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

Make rs80358998(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32331009

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358998
dbSNP (classic)	rs80358998
ClinGen	rs80358998
ebi	rs80358998
HLI	rs80358998
Exac	rs80358998
Gnomad	rs80358998
Varsome	rs80358998
LitVar	rs80358998
Map	rs80358998
PheGenI	rs80358998
Biobank	rs80358998
1000 genomes	rs80358998
hgdp	rs80358998
ensembl	rs80358998
geneview	rs80358998
scholar	rs80358998
google	rs80358998
pharmgkb	rs80358998
gwascentral	rs80358998
openSNP	rs80358998
23andMe	rs80358998
SNPshot	rs80358998
SNPdbe	rs80358998
MSV3d	rs80358998
GWAS Ctlg	rs80358998

Max Magnitude

6

rs80358998, also known as Q258X, c.772C>T and p.Gln258Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358998(T;T)
Alt	rs80358998(T;T)
Reference	Rs80358998(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.32905146C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000045296.3, RCV000077409.5, RCV000131846.1,