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rs587781516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(-;TTTT) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs587781516(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position32341057
GeneBRCA2
is asnp
is mentioned by
dbSNPrs587781516
dbSNP (classic)rs587781516
ClinGenrs587781516
ebirs587781516
HLIrs587781516
Exacrs587781516
Gnomadrs587781516
Varsomers587781516
LitVarrs587781516
Maprs587781516
PheGenIrs587781516
Biobankrs587781516
1000 genomesrs587781516
hgdprs587781516
ensemblrs587781516
geneviewrs587781516
scholarrs587781516
googlers587781516
pharmgkbrs587781516
gwascentralrs587781516
openSNPrs587781516
23andMers587781516
SNPshotrs587781516
SNPdbers587781516
MSV3drs587781516
GWAS Ctlgrs587781516
Max Magnitude6

aka c.6699_6702dupTTTT and also c.6702delT; both are considered pathogenic for breast cancer in ClinVar

ClinVar
Risk rs587781516(-;-)
Alt rs587781516(-;-)
Reference Rs587781516(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915194delT
CLNSRC
CLNACC RCV000129499.2, RCV000241445.1,