rs786202920

plus

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

Make rs786202920(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

32379437

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs786202920
dbSNP (classic)	rs786202920
ClinGen	rs786202920
ebi	rs786202920
HLI	rs786202920
Exac	rs786202920
Gnomad	rs786202920
Varsome	rs786202920
LitVar	rs786202920
Map	rs786202920
PheGenI	rs786202920
Biobank	rs786202920
1000 genomes	rs786202920
hgdp	rs786202920
ensembl	rs786202920
geneview	rs786202920
scholar	rs786202920
google	rs786202920
pharmgkb	rs786202920
gwascentral	rs786202920
openSNP	rs786202920
23andMe	rs786202920
SNPshot	rs786202920
SNPdbe	rs786202920
MSV3d	rs786202920
GWAS Ctlg	rs786202920

Max Magnitude

6

aka c.8875G>T (p.Glu2959Ter) and also c.8875G>A (p.Glu2959Lys), which are annotated pathogenic and of uncertain significance, respectively, in ClinVar

ClinVar
Risk	rs786202920(A;A) rs786202920(T;T)
Alt	rs786202920(A;A) rs786202920(T;T)
Reference	Rs786202920(G;G)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32953574G>A; NC_000013.10:g.32953574G>T
CLNSRC
CLNACC	RCV000463176.1, RCV000165989.1, RCV000241376.2,