rs80358840

Orientation

plus

Stabilized

plus

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

Make rs80358840(A;G)

Make rs80358840(G;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340392

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358840
dbSNP (classic)	rs80358840
ClinGen	rs80358840
ebi	rs80358840
HLI	rs80358840
Exac	rs80358840
Gnomad	rs80358840
Varsome	rs80358840
LitVar	rs80358840
Map	rs80358840
PheGenI	rs80358840
Biobank	rs80358840
1000 genomes	rs80358840
hgdp	rs80358840
ensembl	rs80358840
geneview	rs80358840
scholar	rs80358840
google	rs80358840
pharmgkb	rs80358840
gwascentral	rs80358840
openSNP	rs80358840
23andMe	rs80358840
SNPshot	rs80358840
SNPdbe	rs80358840
MSV3d	rs80358840
GWAS Ctlg	rs80358840

Max Magnitude

6

rs80358840, also known as K2013X, c.6037A>T and p.Lys2013Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358840(G;G) rs80358840(T;T)
Alt	rs80358840(G;G) rs80358840(T;T)
Reference	Rs80358840(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.32914529A>G; NC_000013.10:g.32914529A>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000044826.3, RCV000083121.3, RCV000162633.1, RCV000031597.9, RCV000044827.4, RCV000131111.3, RCV000217667.2,