rs80358533

Orientation

plus

Stabilized

plus

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

Make rs80358533(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32337185

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358533
dbSNP (classic)	rs80358533
ClinGen	rs80358533
ebi	rs80358533
HLI	rs80358533
Exac	rs80358533
Gnomad	rs80358533
Varsome	rs80358533
LitVar	rs80358533
Map	rs80358533
PheGenI	rs80358533
Biobank	rs80358533
1000 genomes	rs80358533
hgdp	rs80358533
ensembl	rs80358533
geneview	rs80358533
scholar	rs80358533
google	rs80358533
pharmgkb	rs80358533
gwascentral	rs80358533
openSNP	rs80358533
23andMe	rs80358533
SNPshot	rs80358533
SNPdbe	rs80358533
MSV3d	rs80358533
GWAS Ctlg	rs80358533

Max Magnitude

6

rs80358533, also known as K944X, c.2830A>T and p.Lys944Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358533(T;T)
Alt	rs80358533(T;T)
Reference	Rs80358533(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32911322A>T
CLNSRC	Inc.
CLNACC	RCV000044070.4, RCV000077287.5, RCV000131101.4, RCV000212222.2,