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rs863224439

From SNPedia

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


Make rs863224439(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position32316529
GeneBRCA2
is asnp
is mentioned by
dbSNPrs863224439
dbSNP (classic)rs863224439
ClinGenrs863224439
ebirs863224439
HLIrs863224439
Exacrs863224439
Gnomadrs863224439
Varsomers863224439
LitVarrs863224439
Maprs863224439
PheGenIrs863224439
Biobankrs863224439
1000 genomesrs863224439
hgdprs863224439
ensemblrs863224439
geneviewrs863224439
scholarrs863224439
googlers863224439
pharmgkbrs863224439
gwascentralrs863224439
openSNPrs863224439
23andMers863224439
SNPshotrs863224439
SNPdbers863224439
MSV3drs863224439
GWAS Ctlgrs863224439
Max Magnitude6

aka c.67+2del

Considered by one ClinVar submitter (as of 2019) to be a variant likely pathogenic for breast cancer

ClinVar
Risk rs863224439(-;-)
Alt rs863224439(-;-)
Reference Rs863224439(T;T)
Significance Probable-Pathogenic
Disease Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32890666delT
CLNSRC
CLNACC RCV000195654.1,