rs80358913

Orientation

plus

Stabilized

plus

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

Make rs80358913(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32330925

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358913
dbSNP (classic)	rs80358913
ClinGen	rs80358913
ebi	rs80358913
HLI	rs80358913
Exac	rs80358913
Gnomad	rs80358913
Varsome	rs80358913
LitVar	rs80358913
Map	rs80358913
PheGenI	rs80358913
Biobank	rs80358913
1000 genomes	rs80358913
hgdp	rs80358913
ensembl	rs80358913
geneview	rs80358913
scholar	rs80358913
google	rs80358913
pharmgkb	rs80358913
gwascentral	rs80358913
openSNP	rs80358913
23andMe	rs80358913
SNPshot	rs80358913
SNPdbe	rs80358913
MSV3d	rs80358913
GWAS Ctlg	rs80358913

Max Magnitude

6

rs80358913, also known as K230X, c.688A>T and p.Lys230Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358913(T;T)
Alt	rs80358913(T;T)
Reference	Rs80358913(A;A)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32905062A>T
CLNSRC	ClinVar
CLNACC	RCV000031654.5, RCV000045084.2, RCV000221860.1,