PPP2R5C — 137 ClinVar variants
All ClinVar germline PPP2R5C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 14 Benign · 4 Benign/Likely benign · 34 Likely benign · 78 Uncertain significance
Full PPP2R5C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PPP2R5C p.Glu177Lys
Conflicting
Single submitter
Houge-Janssens syndrome 4
-
PPP2R5C p.Glu399Lys
Conflicting
Single submitter
Houge-Janssens syndrome 4
- PPP2R5C p.His188Arg Conflicting Single submitter
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP2R5C p.Leu307Ile Uncertain significance Multiple submitters
-
PPP2R5C p.Phe110Ser
Uncertain significance
Multiple submitters
Houge-Janssens syndrome 4
- PPP2R5C p.Pro180Ser Uncertain significance Multiple submitters
- PPP2R5C p.Ala210Ser Uncertain significance Single submitter
- PPP2R5C p.Ala210Val Uncertain significance Single submitter
- PPP2R5C p.Ala253Val Uncertain significance Single submitter
- PPP2R5C p.Ala419Val Uncertain significance Single submitter
- PPP2R5C p.Ala504Thr Uncertain significance Single submitter
- PPP2R5C p.Ala537Gly Uncertain significance Single submitter
- PPP2R5C p.Arg481Trp Uncertain significance Single submitter
- PPP2R5C p.Arg550His Uncertain significance Single submitter
- PPP2R5C p.Asn157Ile Uncertain significance Single submitter
- PPP2R5C p.Asn157Lys Uncertain significance Single submitter
- PPP2R5C p.Asn495Ser Uncertain significance Single submitter
- PPP2R5C p.Asp571Glu Uncertain significance Single submitter
- PPP2R5C p.Glu183Lys Uncertain significance Single submitter
- PPP2R5C p.Glu553Lys Uncertain significance Single submitter
- PPP2R5C p.Gly578Ser Uncertain significance Single submitter
- PPP2R5C p.His152Tyr Uncertain significance Single submitter
- PPP2R5C p.Ile146Val Uncertain significance Single submitter
- PPP2R5C p.Ile414Thr Uncertain significance Single submitter
- PPP2R5C p.Lys121Glu Uncertain significance Single submitter
- PPP2R5C p.Lys304Arg Uncertain significance Single submitter
- PPP2R5C p.Lys528Gln Uncertain significance Single submitter
- PPP2R5C p.Lys543Asn Uncertain significance Single submitter
- PPP2R5C p.Lys561Thr Uncertain significance Single submitter
- PPP2R5C p.Lys562Arg Uncertain significance Single submitter
- PPP2R5C p.Met342Ile Uncertain significance Single submitter
- PPP2R5C p.Met358Val Uncertain significance Single submitter
- PPP2R5C p.Met455Ile Uncertain significance Single submitter
- PPP2R5C p.Met507Thr Uncertain significance Single submitter
- PPP2R5C p.Phe290Val Uncertain significance Single submitter
- PPP2R5C p.Phe359Ile Uncertain significance Single submitter
- PPP2R5C p.Pro381Arg Uncertain significance Single submitter
- PPP2R5C p.Ser502Arg Uncertain significance Single submitter
- PPP2R5C p.Thr337Met Uncertain significance Single submitter
- PPP2R5C p.Thr515Arg Uncertain significance Single submitter
-
PPP2R5C p.Trp186Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
- PPP2R5C p.Tyr264Cys Uncertain significance Single submitter
- PPP2R5C p.Tyr264Phe Uncertain significance Single submitter
- PPP2R5C p.Val106Ile Uncertain significance Single submitter
- PPP2R5C p.Val326Ile Uncertain significance Single submitter
- PPP2R5C p.Val530Ala Uncertain significance Single submitter
-
PPP2R5C p.Arg232Trp
Uncertain significance
No assertion criteria
Global developmental delay
-
PPP2R5C p.Leu294Val
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 10
The independent predictors disagree with each other — read with care.
- PPP2R5C p.Met153Val Uncertain significance Multiple submitters
- PPP2R5C p.Gln258His Uncertain significance Single submitter
- PPP2R5C p.Glu183Asp Uncertain significance Single submitter
- PPP2R5C p.His272Gln Uncertain significance Single submitter
- PPP2R5C p.Leu303Ser Uncertain significance Single submitter
- PPP2R5C p.Lys377Asn Uncertain significance Single submitter
- PPP2R5C p.Ser412Asn Uncertain significance Single submitter
- PPP2R5C p.Thr337Ser Uncertain significance Single submitter
-
PPP2R5C p.Thr440Ala
Uncertain significance
Single submitter
Houge-Janssens syndrome 4
- PPP2R5C p.Val390Ile Uncertain significance Single submitter
All PPP2R5C variants
Pathogenic 1
- p.Thr181del No assertion criteria
Likely pathogenic 2
- p.Cys104Arg Multiple submitters Houge-Janssens syndrome 4
- p.Leu189Pro Single submitter
Conflicting classifications of pathogenicity 4
- p.Arg550Leu Single submitter
- p.Glu177Lys Single submitter Houge-Janssens syndrome 4 ⚠
- p.Glu399Lys Single submitter Houge-Janssens syndrome 4 ⚠
- p.His188Arg Single submitter ⚠
Benign 14
- c.1017+19G>A Multiple submitters
- c.1609-19A>G Multiple submitters
- c.570+5C>T Multiple submitters
- c.794+8A>G Multiple submitters
- c.855-13G>C Multiple submitters
- p.Ala570Pro Multiple submitters
- p.Leu220= Multiple submitters
- p.Phe110= Multiple submitters
- c.1189-11G>A Single submitter
- c.1189-9G>A Single submitter
- c.1317-18G>A Single submitter
- c.259+32825A>G Single submitter
- c.28-20C>T Single submitter
- p.Lys539Arg Single submitter
Benign/Likely benign 4
- c.1018-4G>C Multiple submitters
- c.1491+11A>C Multiple submitters
- p.Leu249= Multiple submitters
- p.Leu303= Multiple submitters
Likely benign 34
- c.1018-19C>T Single submitter
- c.1018-9_1018-5dup Single submitter
- c.1316+8A>G Single submitter
- c.1317-19C>T Single submitter
- c.1492-17C>T Single submitter
- c.1492-4G>A Single submitter
- c.1608+10C>T Single submitter
- c.1609-10C>G Single submitter
- c.259+32796T>C Single submitter
- c.259+32796T>G Single submitter
- c.259+32838T>C Single submitter
- c.260-24965G>A Single submitter
- c.27+8C>T Single submitter
- c.459+14G>A Single submitter
- c.460-8G>A Single submitter
- c.570+20A>G Single submitter
- c.664-20G>A Single submitter
- c.794+10G>C Single submitter
- c.854+20A>G Single submitter
- c.855-13G>T Single submitter
- p.Ala548= Single submitter
- p.Asp532= Single submitter
- p.Gly250= Single submitter
- p.Leu128= Single submitter
- p.Leu322= Single submitter
- p.Lys7Arg Single submitter Houge-Janssens syndrome 4
- p.Phe329= Single submitter
- p.Pro175= Single submitter
- p.Pro354= Single submitter
- p.Ser21= Single submitter
- p.Thr337= Single submitter
- p.Thr499Ala Single submitter
- p.Glu176= No assertion criteria PPP2R5C-related disorder
- p.Thr4fs No assertion criteria PPP2R5C-related disorder
Uncertain significance 78
- p.Leu307Ile Multiple submitters ⚠
- p.Met153Val Multiple submitters ⚠
- p.Phe110Ser Multiple submitters Houge-Janssens syndrome 4 ⚠
- p.Pro180Ser Multiple submitters ⚠
- c.1492-3C>T Single submitter Houge-Janssens syndrome 4
- c.259+32789A>G Single submitter
- c.259+32812A>G Single submitter
- c.259+32839A>G Single submitter
- c.259+32857C>A Single submitter
- c.259+32882T>G Single submitter
- c.259+32884G>A Single submitter
- c.259+32903G>A Single submitter
- c.260-3C>T Single submitter
- c.27+1G>A Single submitter
- c.570+6G>A Single submitter
- c.794+1G>A Single submitter
- c.794+5G>T Single submitter
- c.93+1G>A Single submitter
- c.93+5C>T Single submitter
- p.Ala210Ser Single submitter ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala253Val Single submitter ⚠
- p.Ala419Val Single submitter ⚠
- p.Ala504Thr Single submitter ⚠
- p.Ala537Gly Single submitter ⚠
- p.Arg139Trp Single submitter
- p.Arg481Trp Single submitter ⚠
- p.Arg550His Single submitter ⚠
- p.Asn157Ile Single submitter ⚠
- p.Asn157Lys Single submitter ⚠
- p.Asn495Ser Single submitter ⚠
- p.Asn5Thr Single submitter
- p.Asp571Glu Single submitter ⚠
- p.Gln258His Single submitter ⚠
- p.Glu183Asp Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu553Lys Single submitter ⚠
- p.Glu8Gln Single submitter
- p.Gly578Ser Single submitter ⚠
- p.His152Tyr Single submitter ⚠
- p.His272Gln Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile414Thr Single submitter ⚠
- p.Leu303Ser Single submitter ⚠
- p.Lys121Glu Single submitter ⚠
- p.Lys304Arg Single submitter ⚠
- p.Lys377Asn Single submitter ⚠
- p.Lys528Gln Single submitter ⚠
- p.Lys543Asn Single submitter ⚠
- p.Lys561Thr Single submitter ⚠
- p.Lys562Arg Single submitter ⚠
- p.Met342Ile Single submitter ⚠
- p.Met358Val Single submitter ⚠
- p.Met379Thr Single submitter
- p.Met455Ile Single submitter ⚠
- p.Met507Thr Single submitter ⚠
- p.Phe199Val Single submitter
- p.Phe290Val Single submitter ⚠
- p.Phe359Ile Single submitter ⚠
- p.Pro2Leu Single submitter
- p.Pro381Arg Single submitter ⚠
- p.Ser166Cys Single submitter
- p.Ser412Asn Single submitter ⚠
- p.Ser502Arg Single submitter ⚠
- p.Thr337Met Single submitter ⚠
- p.Thr337Ser Single submitter ⚠
- p.Thr440Ala Single submitter Houge-Janssens syndrome 4 ⚠
- p.Thr515Arg Single submitter ⚠
- p.Trp186Arg Single submitter neurodevelopmental disorder ⚠
- p.Tyr264Cys Single submitter ⚠
- p.Tyr264Phe Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val35Phe Single submitter
- p.Val390Ile Single submitter ⚠
- p.Val530Ala Single submitter ⚠
- p.Arg232Trp No assertion criteria Global developmental delay ⚠
- p.Leu294Val No assertion criteria prostate cancer ⚠