PSMB4 — 273 ClinVar variants
All ClinVar germline PSMB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
2 Pathogenic · 5 Conflicting · 8 Benign · 5 Benign/Likely benign · 101 Likely benign · 152 Uncertain significance
Full PSMB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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.
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PSMB4 p.Ala17Ser
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 3
- PSMB4 p.Asn230Asp Uncertain significance Multiple submitters
- PSMB4 p.Asn83Ser Uncertain significance Multiple submitters
- PSMB4 p.Asn92Lys Uncertain significance Multiple submitters
- PSMB4 p.Gln110Pro Uncertain significance Multiple submitters
- PSMB4 p.Glu197Asp Uncertain significance Multiple submitters
- PSMB4 p.Glu197Val Uncertain significance Multiple submitters
- PSMB4 p.Glu209Lys Uncertain significance Multiple submitters
- PSMB4 p.Glu239Lys Uncertain significance Multiple submitters
-
PSMB4 p.Gly158Arg
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 3
- PSMB4 p.Gly241Arg Uncertain significance Multiple submitters
- PSMB4 p.His258Tyr Uncertain significance Multiple submitters
- PSMB4 p.Leu5Trp Uncertain significance Multiple submitters
- PSMB4 p.Met141Thr Uncertain significance Multiple submitters
- PSMB4 p.Pro16Ser Uncertain significance Multiple submitters
- PSMB4 p.Ser9Phe Uncertain significance Multiple submitters
- PSMB4 p.Thr94Ile Uncertain significance Multiple submitters
- PSMB4 p.Val156Leu Uncertain significance Multiple submitters
- PSMB4 p.Val214Leu Uncertain significance Multiple submitters
- PSMB4 p.Ala13Val Uncertain significance Single submitter
- PSMB4 p.Ala140Thr Uncertain significance Single submitter
- PSMB4 p.Ala161Val Uncertain significance Single submitter
- PSMB4 p.Ala17Thr Uncertain significance Single submitter
- PSMB4 p.Ala17Val Uncertain significance Single submitter
- PSMB4 p.Ala210Asp Uncertain significance Single submitter
- PSMB4 p.Ala35Thr Uncertain significance Single submitter
- PSMB4 p.Ala35Val Uncertain significance Single submitter
- PSMB4 p.Arg131Lys Uncertain significance Single submitter
- PSMB4 p.Arg144Pro Uncertain significance Single submitter
- PSMB4 p.Arg144Trp Uncertain significance Single submitter
- PSMB4 p.Arg145Pro Uncertain significance Single submitter
- PSMB4 p.Arg196Gln Uncertain significance Single submitter
-
PSMB4 p.Arg224Pro
Uncertain significance
Single submitter
muscular dystrophy
- PSMB4 p.Arg23Cys Uncertain significance Single submitter
- PSMB4 p.Arg23His Uncertain significance Single submitter
- PSMB4 p.Arg23Ser Uncertain significance Single submitter
- PSMB4 p.Arg80Cys Uncertain significance Single submitter
- PSMB4 p.Arg89Pro Uncertain significance Single submitter
- PSMB4 p.Arg8Pro Uncertain significance Single submitter
- PSMB4 p.Arg8Trp Uncertain significance Single submitter
- PSMB4 p.Asn253Ser Uncertain significance Single submitter
- PSMB4 p.Asp162Asn Uncertain significance Single submitter
- PSMB4 p.Asp212Glu Uncertain significance Single submitter
- PSMB4 p.Asp255Asn Uncertain significance Single submitter
- PSMB4 p.Asp255Gly Uncertain significance Single submitter
- PSMB4 p.Cys217Arg Uncertain significance Single submitter
- PSMB4 p.Cys217Trp Uncertain significance Single submitter
- PSMB4 p.Cys217Tyr Uncertain significance Single submitter
- PSMB4 p.Glu209Gln Uncertain significance Single submitter
- PSMB4 p.Glu251Asp Uncertain significance Single submitter
- PSMB4 p.Gly10Arg Uncertain significance Single submitter
- PSMB4 p.Gly10Val Uncertain significance Single submitter
- PSMB4 p.Gly14Arg Uncertain significance Single submitter
- PSMB4 p.Gly15Asp Uncertain significance Single submitter
- PSMB4 p.Gly15Ser Uncertain significance Single submitter
- PSMB4 p.Gly15Val Uncertain significance Single submitter
- PSMB4 p.Gly174Arg Uncertain significance Single submitter
- PSMB4 p.Gly185Ser Uncertain significance Single submitter
- PSMB4 p.Gly41Ser Uncertain significance Single submitter
- PSMB4 p.Ile117Val Uncertain significance Single submitter
- PSMB4 p.Ile133Ser Uncertain significance Single submitter
- PSMB4 p.Ile43Val Uncertain significance Single submitter
- PSMB4 p.Ile67Thr Uncertain significance Single submitter
- PSMB4 p.Ile84Leu Uncertain significance Single submitter
- PSMB4 p.Leu173His Uncertain significance Single submitter
- PSMB4 p.Leu57Phe Uncertain significance Single submitter
- PSMB4 p.Met155Val Uncertain significance Single submitter
- PSMB4 p.Met259Ile Uncertain significance Single submitter
- PSMB4 p.Met32Lys Uncertain significance Single submitter
- PSMB4 p.Phe4Val Uncertain significance Single submitter
- PSMB4 p.Pro28Ser Uncertain significance Single submitter
- PSMB4 p.Pro49Leu Uncertain significance Single submitter
- PSMB4 p.Ser135Thr Uncertain significance Single submitter
- PSMB4 p.Ser181Leu Uncertain significance Single submitter
- PSMB4 p.Ser26Pro Uncertain significance Single submitter
- PSMB4 p.Ser36Phe Uncertain significance Single submitter
- PSMB4 p.Ser93Thr Uncertain significance Single submitter
- PSMB4 p.Thr208Pro Uncertain significance Single submitter
- PSMB4 p.Thr238Asn Uncertain significance Single submitter
- PSMB4 p.Thr252Ser Uncertain significance Single submitter
- PSMB4 p.Thr27Ile Uncertain significance Single submitter
- PSMB4 p.Thr46Ile Uncertain significance Single submitter
- PSMB4 p.Thr52Ile Uncertain significance Single submitter
- PSMB4 p.Trp152Arg Uncertain significance Single submitter
- PSMB4 p.Tyr160His Uncertain significance Single submitter
- PSMB4 p.Tyr169Cys Uncertain significance Single submitter
- PSMB4 p.Tyr222Phe Uncertain significance Single submitter
- PSMB4 p.Tyr223Cys Uncertain significance Single submitter
- PSMB4 p.Val198Ala Uncertain significance Single submitter
- PSMB4 p.Val198Ile Uncertain significance Single submitter
- PSMB4 p.Val214Glu Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- PSMB4 p.Arg211Cys Uncertain significance Multiple submitters
- PSMB4 p.Asn230Ser Uncertain significance Multiple submitters
- PSMB4 p.Asp212Tyr Uncertain significance Multiple submitters
- PSMB4 p.Leu199Arg Uncertain significance Multiple submitters
- PSMB4 p.Leu199Pro Uncertain significance Multiple submitters
- PSMB4 p.Met218Val Likely benign Multiple submitters
- PSMB4 p.Ala132Thr Uncertain significance Single submitter
- PSMB4 p.Ala235Thr Uncertain significance Single submitter
- PSMB4 p.Ala257Thr Uncertain significance Single submitter
- PSMB4 p.Arg211His Uncertain significance Single submitter
- PSMB4 p.Arg219Gln Uncertain significance Single submitter
- PSMB4 p.Asn253Lys Uncertain significance Single submitter
- PSMB4 p.Gly15Arg Uncertain significance Single submitter
- PSMB4 p.Gly163Glu Uncertain significance Single submitter
- PSMB4 p.Gly241Ser Uncertain significance Single submitter
- PSMB4 p.Gly76Ser Uncertain significance Single submitter
- PSMB4 p.His126Gln Uncertain significance Single submitter
- PSMB4 p.Ile256Thr Uncertain significance Single submitter
- PSMB4 p.Met155Thr Uncertain significance Single submitter
- PSMB4 p.Met218Ile Uncertain significance Single submitter
- PSMB4 p.Met95Thr Uncertain significance Single submitter
- PSMB4 p.Ser206Arg Uncertain significance Single submitter
- PSMB4 p.Ser93Ile Uncertain significance Single submitter
- PSMB4 p.Thr236Ala Uncertain significance Single submitter
- PSMB4 p.Tyr107Cys Uncertain significance Single submitter
- PSMB4 p.Val204Gly Uncertain significance Single submitter
- PSMB4 p.Val220Leu Uncertain significance Single submitter
- PSMB4 p.Val51Leu Uncertain significance Single submitter
All PSMB4 variants
Pathogenic 2
- p.Asp212_Val214del No assertion criteria proteasome-associated autoinflammatory syndrome 3
- p.Tyr222Ter No assertion criteria proteasome-associated autoinflammatory syndrome 1
Conflicting classifications of pathogenicity 5
- p.Gly113Ser Single submitter ⚠
- p.Phe31Leu Single submitter ⚠
- p.Phe4Leu Single submitter ⚠
- p.Thr46= Single submitter
- p.Val116= Single submitter
Benign 8
- c.347+16A>G Multiple submitters
- c.495-40T>C Multiple submitters proteasome-associated autoinflammatory syndrome 3
- c.783-17_783-16del Multiple submitters
- p.Pro25= Multiple submitters proteasome-associated autoinflammatory syndrome 3
- c.347+107A>G Single submitter
- c.782+19dup Single submitter
- c.783-18T>C Single submitter
- p.Asn153= Single submitter
Benign/Likely benign 5
- c.577-20T>C Multiple submitters
- c.-17C>T Multiple submitters
- p.Gly6= Multiple submitters
- p.Ile234Thr Multiple submitters proteasome-associated autoinflammatory syndrome 3
- p.Leu112= Multiple submitters
Likely benign 101
- c.141-16C>T Multiple submitters
- c.141-9A>T Multiple submitters
- c.782+18A>T Multiple submitters
- c.782+20T>C Multiple submitters
- p.Ala235= Multiple submitters
- p.Ala98= Multiple submitters
- p.Asn230= Multiple submitters
- p.Met218Val Multiple submitters ⚠
- c.140+11G>C Single submitter
- c.140+13C>A Single submitter
- c.140+19C>T Single submitter
- c.141-14T>C Single submitter
- c.141-15G>A Single submitter
- c.141-17C>A Single submitter
- c.141-9_141-6del Single submitter
- c.141-9A>C Single submitter
- c.347+15G>C Single submitter
- c.347+15G>T Single submitter
- c.347+17A>G Single submitter
- c.347+20G>A Single submitter
- c.348-11T>C Single submitter
- c.348-14C>G Single submitter
- c.348-8C>T Single submitter
- c.494+14C>T Single submitter
- c.494+17del Single submitter
- c.494+19A>C Single submitter
- c.495-7C>T Single submitter
- c.576+11A>C Single submitter
- c.576+20G>A Single submitter
- c.576+8_576+9del Single submitter
- c.576+8G>T Single submitter
- c.576+9dup Single submitter
- c.577-14C>T Single submitter
- c.577-16C>A Single submitter
- c.577-5C>T Single submitter
- c.577-6C>G Single submitter
- c.693+10G>A Single submitter
- c.693+15G>C Single submitter
- c.693+15G>T Single submitter
- c.693+16G>A Single submitter
- c.693+19A>G Single submitter
- c.693+8A>G Single submitter
- c.694-10T>C Single submitter
- c.694-11C>T Single submitter
- c.694-12_694-10del Single submitter
- c.694-12_694-9del Single submitter
- c.694-18T>C Single submitter
- c.694-20_694-17del Single submitter
- c.694-20A>C Single submitter
- c.694-4C>A Single submitter
- c.694-6T>C Single submitter
- c.694-7C>T Single submitter
- c.782+10A>G Single submitter
- c.782+11G>A Single submitter
- c.782+13G>A Single submitter
- c.782+19A>G Single submitter
- c.782+20T>G Single submitter
- c.782+8A>G Single submitter
- c.783-10_783-7del Single submitter
- c.783-15_783-12del Single submitter
- c.783-7T>G Single submitter
- c.783-9_783-6del Single submitter
- p.Ala103= Single submitter
- p.Ala13= Single submitter
- p.Ala257= Single submitter
- p.Ala35= Single submitter
- p.Ala37= Single submitter
- p.Arg145= Single submitter
- p.Arg211= Single submitter
- p.Arg224= Single submitter
- p.Arg86= Single submitter
- p.Asp212Asn Single submitter
- p.Gln202= Single submitter
- p.Gln233= Single submitter
- p.Gly100= Single submitter
- p.Gly174= Single submitter
- p.Gly262= Single submitter
- p.Gly58= Single submitter
- p.His134= Single submitter
- p.Ile157= Single submitter
- p.Ile234= Single submitter
- p.Leu194= Single submitter
- p.Leu195= Single submitter
- p.Leu221= Single submitter
- p.Leu248= Single submitter
- p.Leu5= Single submitter
- p.Leu57= Single submitter
- p.Leu72= Single submitter
- p.Leu96= Single submitter
- p.Met1Thr Single submitter
- p.Phe61= Single submitter
- p.Pro16= Single submitter
- p.Ser146= Single submitter
- p.Ser36= Single submitter
- p.Ter265= Single submitter
- p.Thr208= Single submitter
- p.Thr238= Single submitter
- p.Tyr107= Single submitter
- p.Tyr160= Single submitter
- p.Tyr222= Single submitter
- p.Tyr75= Single submitter
Uncertain significance 152
- c.-9G>A Multiple submitters proteasome-associated autoinflammatory syndrome 3
- p.Ala17Ser Multiple submitters proteasome-associated autoinflammatory syndrome 3 ⚠
- p.Arg211Cys Multiple submitters ⚠
- p.Asn230Asp Multiple submitters ⚠
- p.Asn230Ser Multiple submitters ⚠
- p.Asn83Ser Multiple submitters ⚠
- p.Asn92Lys Multiple submitters ⚠
- p.Asp212Tyr Multiple submitters ⚠
- p.Gln110Pro Multiple submitters ⚠
- p.Glu197Asp Multiple submitters ⚠
- p.Glu197Val Multiple submitters ⚠
- p.Glu209Lys Multiple submitters ⚠
- p.Glu239Lys Multiple submitters ⚠
- p.Gly158Arg Multiple submitters proteasome-associated autoinflammatory syndrome 3 ⚠
- p.Gly241Arg Multiple submitters ⚠
- p.His258Tyr Multiple submitters ⚠
- p.Leu199Arg Multiple submitters ⚠
- p.Leu199Pro Multiple submitters ⚠
- p.Leu213Phe Multiple submitters
- p.Leu5Trp Multiple submitters ⚠
- p.Met141Thr Multiple submitters ⚠
- p.Pro16Ser Multiple submitters ⚠
- p.Pro247Ser Multiple submitters
- p.Ser9Phe Multiple submitters ⚠
- p.Thr94Ile Multiple submitters ⚠
- p.Val156Leu Multiple submitters ⚠
- p.Val214Leu Multiple submitters ⚠
- c.347+4A>G Single submitter
- c.494+17A>G Single submitter
- c.576+5del Single submitter
- c.577-13C>G Single submitter
- c.577-32_577-9del Single submitter
- c.*5C>T Single submitter
- p.Ala132Thr Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala140Thr Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala191fs Single submitter
- p.Ala191Gly Single submitter
- p.Ala210Asp Single submitter ⚠
- p.Ala235Thr Single submitter ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Arg131Lys Single submitter ⚠
- p.Arg144Pro Single submitter ⚠
- p.Arg144Trp Single submitter ⚠
- p.Arg145Pro Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg196Ter Single submitter
- p.Arg211His Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg224Pro Single submitter muscular dystrophy ⚠
- p.Arg231Trp Single submitter
- p.Arg23Cys Single submitter ⚠
- p.Arg23His Single submitter ⚠
- p.Arg23Ser Single submitter ⚠
- p.Arg80Cys Single submitter ⚠
- p.Arg89Pro Single submitter ⚠
- p.Arg8Pro Single submitter ⚠
- p.Arg8Trp Single submitter ⚠
- p.Asn253Lys Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asn91Val Single submitter
- p.Asp162Asn Single submitter ⚠
- p.Asp162del Single submitter
- p.Asp212Glu Single submitter ⚠
- p.Asp255Asn Single submitter ⚠
- p.Asp255Gly Single submitter ⚠
- p.Cys217Arg Single submitter ⚠
- p.Cys217Trp Single submitter ⚠
- p.Cys217Tyr Single submitter ⚠
- p.Glu178_Ala179insGlu Single submitter
- p.Glu197del Single submitter
- p.Glu209Gln Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly10Val Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly15Asp Single submitter ⚠
- p.Gly15Cys Single submitter
- p.Gly15Ser Single submitter ⚠
- p.Gly15Val Single submitter ⚠
- p.Gly163Glu Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly185Ser Single submitter ⚠
- p.Gly241Ala Single submitter
- p.Gly241Asp Single submitter
- p.Gly241Ser Single submitter ⚠
- p.Gly41Ser Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.His126Gln Single submitter ⚠
- p.Ile117Val Single submitter ⚠
- p.Ile133Ser Single submitter ⚠
- p.Ile256Thr Single submitter ⚠
- p.Ile43Val Single submitter ⚠
- p.Ile67Phe Single submitter
- p.Ile67Thr Single submitter ⚠
- p.Ile84Leu Single submitter ⚠
- p.Leu167= Single submitter
- p.Leu167Phe Single submitter
- p.Leu173His Single submitter ⚠
- p.Leu57Phe Single submitter ⚠
- p.Lys60Met Single submitter
- p.Met155Thr Single submitter ⚠
- p.Met155Val Single submitter ⚠
- p.Met1Leu Single submitter
- p.Met1Val Single submitter
- p.Met218Ile Single submitter ⚠
- p.Met259Ile Single submitter ⚠
- p.Met32Lys Single submitter ⚠
- p.Met95Thr Single submitter ⚠
- p.Phe4Val Single submitter ⚠
- p.Pro16fs Single submitter proteasome-associated autoinflammatory syndrome 3
- p.Pro247Thr Single submitter
- p.Pro28Ser Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Ser135Thr Single submitter ⚠
- p.Ser181Leu Single submitter ⚠
- p.Ser206Arg Single submitter ⚠
- p.Ser26Pro Single submitter ⚠
- p.Ser36Phe Single submitter ⚠
- p.Ser93Ile Single submitter ⚠
- p.Ser93Thr Single submitter ⚠
- p.Thr184Ser Single submitter
- p.Thr208Pro Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr238Asn Single submitter ⚠
- p.Thr252Ser Single submitter ⚠
- p.Thr27Ile Single submitter ⚠
- p.Thr46Ile Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Trp152Arg Single submitter ⚠
- p.Trp254_Ala257delinsCys Single submitter
- p.Tyr107Cys Single submitter ⚠
- p.Tyr160His Single submitter ⚠
- p.Tyr169Cys Single submitter ⚠
- p.Tyr222Phe Single submitter ⚠
- p.Tyr223Cys Single submitter ⚠
- p.Tyr223fs Single submitter
- p.Tyr229Ter Single submitter
- p.Val198Ala Single submitter ⚠
- p.Val198Ile Single submitter ⚠
- p.Val204_Leu205insVal Single submitter
- p.Val204Gly Single submitter ⚠
- p.Val214Glu Single submitter ⚠
- p.Val220Leu Single submitter ⚠
- p.Val51Leu Single submitter ⚠
- p.Val56fs Single submitter