PSMB10 — 45 ClinVar variants
All ClinVar germline PSMB10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
5 Pathogenic · 1 Conflicting · 2 Benign · 9 Likely benign · 28 Uncertain significance
Full PSMB10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSMB10 p.Arg240Leu Uncertain significance Multiple submitters
-
PSMB10 p.Gly246Arg
Uncertain significance
Multiple submitters
proteasome-associated autoinflammatory syndrome 5
- PSMB10 p.Ile73Thr Uncertain significance Multiple submitters
- PSMB10 p.Ala269Thr Uncertain significance Single submitter
- PSMB10 p.Arg240Cys Uncertain significance Single submitter
- PSMB10 p.Cys215Ser Uncertain significance Single submitter
- PSMB10 p.Cys82Trp Uncertain significance Single submitter
- PSMB10 p.Glu15Asp Uncertain significance Single submitter
- PSMB10 p.Glu265Lys Uncertain significance Single submitter
- PSMB10 p.Glu273Lys Uncertain significance Single submitter
- PSMB10 p.Gly84Glu Uncertain significance Single submitter
- PSMB10 p.Met270Thr Uncertain significance Single submitter
- PSMB10 p.Pro257Ser Uncertain significance Single submitter
- PSMB10 p.Thr125Met Uncertain significance Single submitter
- PSMB10 p.Thr227Ile Uncertain significance Single submitter
- PSMB10 p.Val142Ile Uncertain significance Single submitter
- PSMB10 p.Val152Leu Uncertain significance Single submitter
- PSMB10 p.Val235Met Uncertain significance Single submitter
-
PSMB10 p.Gly131Asp
Uncertain significance
No assertion criteria
PSMB10-related disorder
Predictors split 3
The independent predictors disagree with each other — read with care.
- PSMB10 p.Arg226Gln Uncertain significance Single submitter
-
PSMB10 p.Gly210Asp
Uncertain significance
Single submitter
proteasome-associated autoinflammatory syndrome 5
- PSMB10 p.Thr199Ile Uncertain significance Single submitter
All PSMB10 variants
Pathogenic 5
- p.Gly201Arg Single submitter immunodeficiency 121 with autoinflammation
- c.710+1G>C No assertion criteria proteasome-associated autoinflammatory syndrome 5
- p.Cys83fs No assertion criteria proteasome-associated autoinflammatory syndrome 5
- p.Phe14del No assertion criteria proteasome-associated autoinflammatory syndrome 5
- p.Phe14Ser No assertion criteria proteasome-associated autoinflammatory syndrome 5
Conflicting classifications of pathogenicity 1
- c.56+1G>A Single submitter proteasome-associated autoinflammatory syndrome 5
Likely benign 9
- c.558+10C>T Multiple submitters
- p.Ala116= Single submitter
- p.Arg123Cys Single submitter
- p.Arg237= Single submitter
- p.Gln18Pro Single submitter
- p.Ile121Val Single submitter
- p.Leu258= Single submitter
- p.Lys3= Single submitter
- p.Thr220= Single submitter
Uncertain significance 28
- p.Arg240Leu Multiple submitters ⚠
- p.Gly246Arg Multiple submitters proteasome-associated autoinflammatory syndrome 5 ⚠
- p.Ile73Thr Multiple submitters ⚠
- c.558+3G>A Single submitter
- p.Ala269Thr Single submitter ⚠
- p.Arg123fs Single submitter
- p.Arg226Gln Single submitter ⚠
- p.Arg240Cys Single submitter ⚠
- p.Cys215Ser Single submitter ⚠
- p.Cys82Trp Single submitter ⚠
- p.Glu15Asp Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu273Lys Single submitter ⚠
- p.Gly134Asp Single submitter
- p.Gly210Asp Single submitter proteasome-associated autoinflammatory syndrome 5 ⚠
- p.Gly84Glu Single submitter ⚠
- p.Lys72del Single submitter PSMB10-related disorder
- p.Met270Thr Single submitter ⚠
- p.Pro257Ser Single submitter ⚠
- p.Thr125Met Single submitter ⚠
- p.Thr199Ile Single submitter ⚠
- p.Thr227Ile Single submitter ⚠
- p.Tyr150Asn Single submitter
- p.Val142Ile Single submitter ⚠
- p.Val152Leu Single submitter ⚠
- p.Val212Ala Single submitter
- p.Val235Met Single submitter ⚠
- p.Gly131Asp No assertion criteria PSMB10-related disorder ⚠