rs80358783

Orientation

plus

Stabilized

plus

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

Make rs80358783(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339969

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358783
dbSNP (classic)	rs80358783
ClinGen	rs80358783
ebi	rs80358783
HLI	rs80358783
Exac	rs80358783
Gnomad	rs80358783
Varsome	rs80358783
LitVar	rs80358783
Map	rs80358783
PheGenI	rs80358783
Biobank	rs80358783
1000 genomes	rs80358783
hgdp	rs80358783
ensembl	rs80358783
geneview	rs80358783
scholar	rs80358783
google	rs80358783
pharmgkb	rs80358783
gwascentral	rs80358783
openSNP	rs80358783
23andMe	rs80358783
SNPshot	rs80358783
SNPdbe	rs80358783
MSV3d	rs80358783
GWAS Ctlg	rs80358783

Max Magnitude

6

rs80358783, also known as K1872X, c.5614A>T and p.Lys1872Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358783(T;T)
Alt	rs80358783(T;T)
Reference	Rs80358783(A;A)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32914106A>T
CLNSRC	ClinVar
CLNACC	RCV000044696.5, RCV000113450.3, RCV000162926.1, RCV000212241.1,