PSMB9 — 59 ClinVar variants
All ClinVar germline PSMB9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 3 Conflicting · 7 Benign · 2 Benign/Likely benign · 11 Likely benign · 34 Uncertain significance
Full PSMB9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PSMB9 p.Ala64Ser Conflicting Single submitter
-
PSMB9 p.Gly165Asp
Conflicting
Single submitter
proteasome-associated autoinflammatory syndrome 3
Predictors lean, ClinVar uncertain 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PSMB9 p.Ala4Thr
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 6
- PSMB9 p.Ala4Val Uncertain significance Single submitter
- PSMB9 p.Ala72Gly Uncertain significance Single submitter
- PSMB9 p.Ala80Ser Uncertain significance Single submitter
- PSMB9 p.Arg111Gln Uncertain significance Single submitter
- PSMB9 p.Arg126His Uncertain significance Single submitter
- PSMB9 p.Arg185Trp Uncertain significance Single submitter
- PSMB9 p.Arg206Gln Uncertain significance Single submitter
- PSMB9 p.Asn211Ser Uncertain significance Single submitter
- PSMB9 p.Asp10Val Uncertain significance Single submitter
- PSMB9 p.Asp177Tyr Uncertain significance Single submitter
- PSMB9 p.Gly129Asp Uncertain significance Single submitter
- PSMB9 p.Gly190Arg Uncertain significance Single submitter
- PSMB9 p.Gly5Ala Uncertain significance Single submitter
- PSMB9 p.Gly5Glu Uncertain significance Single submitter
- PSMB9 p.Gly9Arg Uncertain significance Single submitter
- PSMB9 p.His117Arg Uncertain significance Single submitter
- PSMB9 p.Ile88Thr Uncertain significance Single submitter
- PSMB9 p.Leu85Ile Uncertain significance Single submitter
- PSMB9 p.Met24Leu Uncertain significance Single submitter
- PSMB9 p.Thr197Ser Uncertain significance Single submitter
- PSMB9 p.Tyr108Ser Uncertain significance Single submitter
- PSMB9 p.Val196Ile Uncertain significance Single submitter
-
PSMB9 p.Leu57Pro
Uncertain significance
No assertion criteria
PSMB9-related disorder
Predictors split 8
The independent predictors disagree with each other — read with care.
- PSMB9 p.Arg173Cys Likely benign Multiple submitters
- PSMB9 p.Val32Ile Benign/Likely benign Multiple submitters
- PSMB9 p.Arg126Cys Uncertain significance Single submitter
- PSMB9 p.Arg60Cys Uncertain significance Single submitter
- PSMB9 p.Pro56Leu Uncertain significance Single submitter
- PSMB9 p.Tyr155Cys Uncertain significance Single submitter
- PSMB9 p.Tyr157His Uncertain significance Single submitter
- PSMB9 p.Val40Met Uncertain significance Single submitter
All PSMB9 variants
Pathogenic 1
- p.Gly156Asp No assertion criteria proteasome-associated autoinflammatory syndrome 6
Likely pathogenic 1
- c.128+1G>A Single submitter
Conflicting classifications of pathogenicity 3
- p.Ala64Ser Single submitter ⚠
- p.Arg111= Single submitter
- p.Gly165Asp Single submitter proteasome-associated autoinflammatory syndrome 3 ⚠
Benign 7
- p.Ala161= Multiple submitters
- c.260+177T>C Single submitter
- c.532+168T>C Single submitter
- c.*56_*57insAT Single submitter
- p.Arg126= Single submitter
- p.Arg141Ter Single submitter
- p.Tyr162= Single submitter
Benign/Likely benign 2
- p.Arg60His Multiple submitters proteasome-associated autoinflammatory syndrome 3
- p.Val32Ile Multiple submitters ⚠
Likely benign 11
- p.Arg173Cys Multiple submitters ⚠
- p.Ala45= Single submitter
- p.Arg13Gln Single submitter
- p.Gly31= Single submitter
- p.Gly43= Single submitter
- p.Gly9Glu Single submitter
- p.Thr197= Single submitter
- p.Val17Gly Single submitter
- p.Glu84= No assertion criteria PSMB9-related disorder
- p.Ser189= No assertion criteria PSMB9-related disorder
- p.Ser66= No assertion criteria PSMB9-related disorder
Uncertain significance 34
- p.Ala45fs Single submitter
- p.Ala4Thr Single submitter proteasome-associated autoinflammatory syndrome 6 ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala72Gly Single submitter ⚠
- p.Ala80Ser Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg111Ter Single submitter
- p.Arg126Cys Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg206Gln Single submitter ⚠
- p.Arg60Cys Single submitter ⚠
- p.Asn211Ser Single submitter ⚠
- p.Asp10Val Single submitter ⚠
- p.Asp177Tyr Single submitter ⚠
- p.Gly129Asp Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly30Arg Single submitter
- p.Gly5Ala Single submitter ⚠
- p.Gly5Glu Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His117Arg Single submitter ⚠
- p.Ile88Thr Single submitter ⚠
- p.Leu85Ile Single submitter ⚠
- p.Met24Leu Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Thr197Ser Single submitter ⚠
- p.Tyr108Ser Single submitter ⚠
- p.Tyr155Cys Single submitter ⚠
- p.Tyr157His Single submitter ⚠
- p.Tyr162Cys Single submitter
- p.Val196Ile Single submitter ⚠
- p.Val40Met Single submitter ⚠
- p.Leu57Pro No assertion criteria PSMB9-related disorder ⚠