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rs863223423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6.2 Pulmonary arterial hypertension
(-;TACC) 6.2 Pulmonary arterial hypertension
Make rs863223423(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position202464918
GeneBMPR2
is asnp
is mentioned by
dbSNPrs863223423
dbSNP (classic)rs863223423
ClinGenrs863223423
ebirs863223423
HLIrs863223423
Exacrs863223423
Gnomadrs863223423
Varsomers863223423
LitVarrs863223423
Maprs863223423
PheGenIrs863223423
Biobankrs863223423
1000 genomesrs863223423
hgdprs863223423
ensemblrs863223423
geneviewrs863223423
scholarrs863223423
googlers863223423
pharmgkbrs863223423
gwascentralrs863223423
openSNPrs863223423
23andMers863223423
SNPshotrs863223423
SNPdbers863223423
MSV3drs863223423
GWAS Ctlgrs863223423
Max Magnitude6.2

rs863223423 refers to both c.186dupA (p.Gly63Argfs) as well as c.186_187insTACC (p.G63Yfs*3), even though they are quite different mutations. Both are considered pathogenic in ClinVar for familial pulmonary arterial hypertension.

Due to the ambiguity in naming, when a direct-to-consumer genotyping company returns a result of rs863223423(D;I), it is unclear which mutation is being reported. For simplicity's sake, SNPedia is assuming it is the "simpler" mutation, i.e. c.186dupA, but be aware there is no evidence for this, and to our knowledge, no company has publicly stated what their DNA chip actually tests at this position.


ClinVar
Risk rs863223423(A;A) rs863223423(TACC;TACC)
Alt rs863223423(A;A) rs863223423(TACC;TACC)
Reference Rs863223423(-;-)
Significance Pathogenic
Disease Primary pulmonary hypertension not provided
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension not provided
Reversed 0
HGVS NC_000002.11:g.203329641_203329642insTACC; NC_000002.11:g.203329641dupA
CLNSRC
CLNACC RCV000488633.1, RCV000198060.1,