rs80358546

Orientation

plus

Stabilized

plus

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

Make rs80358546(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319307

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358546
dbSNP (classic)	rs80358546
ClinGen	rs80358546
ebi	rs80358546
HLI	rs80358546
Exac	rs80358546
Gnomad	rs80358546
Varsome	rs80358546
LitVar	rs80358546
Map	rs80358546
PheGenI	rs80358546
Biobank	rs80358546
1000 genomes	rs80358546
hgdp	rs80358546
ensembl	rs80358546
geneview	rs80358546
scholar	rs80358546
google	rs80358546
pharmgkb	rs80358546
gwascentral	rs80358546
openSNP	rs80358546
23andMe	rs80358546
SNPshot	rs80358546
SNPdbe	rs80358546
MSV3d	rs80358546
GWAS Ctlg	rs80358546

Max Magnitude

6

rs80358546, also known as K100X, c.298A>T and p.Lys100Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358546(T;T)
Alt	rs80358546(T;T)
Reference	Rs80358546(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32893444A>T
CLNSRC	ClinVar
CLNACC	RCV000044099.3, RCV000113370.2,