UBE2T — 86 ClinVar variants
All ClinVar germline UBE2T variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
10 Pathogenic · 5 Likely pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 36 Likely benign · 29 Uncertain significance
Full UBE2T gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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UBE2T p.Gln2Glu
Pathogenic
Single submitter
Fanconi anemia complementation group T
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBE2T p.Ala143Thr Uncertain significance Multiple submitters
- UBE2T p.Cys24Tyr Uncertain significance Multiple submitters
- UBE2T p.Gly170Val Uncertain significance Multiple submitters
- UBE2T p.Pro58Ala Uncertain significance Multiple submitters
- UBE2T p.Val187Ala Uncertain significance Multiple submitters
- UBE2T p.Ala105Ser Uncertain significance Single submitter
- UBE2T p.Ala105Thr Uncertain significance Single submitter
- UBE2T p.Ala151Pro Uncertain significance Single submitter
- UBE2T p.Arg152Gly Uncertain significance Single submitter
- UBE2T p.Arg35Gln Uncertain significance Single submitter
- UBE2T p.Asn135Ser Uncertain significance Single submitter
- UBE2T p.Asp158Asn Uncertain significance Single submitter
- UBE2T p.Gly170Ser Uncertain significance Single submitter
- UBE2T p.Gly96Arg Uncertain significance Single submitter
- UBE2T p.Ile128Thr Uncertain significance Single submitter
- UBE2T p.Ile74Val Uncertain significance Single submitter
- UBE2T p.Leu11Arg Uncertain significance Single submitter
- UBE2T p.Pro94Gln Uncertain significance Single submitter
- UBE2T p.Pro94Thr Uncertain significance Single submitter
- UBE2T p.Ser184Arg Uncertain significance Single submitter
- UBE2T p.Thr16Ser Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All UBE2T variants
Pathogenic 10
- p.Arg69Ter Single submitter
- p.Gln2Glu Single submitter Fanconi anemia complementation group T ⚠
- p.Gln37Ter Single submitter
- p.Ile56fs Single submitter
- p.Leu124fs Single submitter
- p.Pro45fs Single submitter
- c.110-280_468+264del No assertion criteria Fanconi anemia complementation group T
- c.110-280_468+264dup No assertion criteria Fanconi anemia complementation group T
- c.179+5G>A No assertion criteria Fanconi anemia complementation group T
- c.-65+1253_*12383del No assertion criteria Fanconi anemia complementation group T
Likely pathogenic 5
- c.109+1G>A Single submitter
- c.110-1G>T Single submitter
- p.Arg144fs Single submitter UBE2T-related disorders
- p.Gly21fs Single submitter
- p.Pro62fs Single submitter Fanconi anemia complementation group T
Conflicting classifications of pathogenicity 1
- p.Ala36Thr Single submitter ⚠
Benign 4
- c.385-11T>C Multiple submitters Fanconi anemia complementation group T
- p.Ser5= Multiple submitters Fanconi anemia complementation group T
- c.180-307A>T Single submitter
- c.469-203T>C Single submitter
Benign/Likely benign 1
- c.469-20del Multiple submitters
Likely benign 36
- c.109+18_109+23del Single submitter
- c.110-14T>C Single submitter
- c.110-15_110-12del Single submitter
- c.110-15C>A Single submitter
- c.110-9T>C Single submitter
- c.179+17T>A Single submitter
- c.180-11T>C Single submitter
- c.180-24_180-21del Single submitter
- c.180-9C>G Single submitter
- c.285+18G>A Single submitter
- c.285+8G>A Single submitter
- c.286-15del Single submitter
- c.384+10C>T Single submitter
- c.384+19C>G Single submitter
- c.384+20T>C Single submitter
- c.385-6dup Single submitter
- c.469-6C>T Single submitter
- c.469-9C>T Single submitter
- p.Asp121= Single submitter
- p.Asp127= Single submitter
- p.Asp32= Single submitter
- p.Gln30= Single submitter
- p.Gln67= Single submitter
- p.Glu47= Single submitter
- p.Gly49= Single submitter
- p.Ile104= Single submitter
- p.Ile68= Single submitter
- p.Leu113= Single submitter
- p.Leu166= Single submitter
- p.Leu71= Single submitter
- p.Leu92= Single submitter
- p.Lys182= Single submitter
- p.Pro123= Single submitter
- p.Ser129= Single submitter
- p.Ser172= Single submitter
- p.Thr106= Single submitter
Uncertain significance 29
- p.Ala143Thr Multiple submitters ⚠
- p.Cys24Tyr Multiple submitters ⚠
- p.Gly170Val Multiple submitters ⚠
- p.Pro58Ala Multiple submitters ⚠
- p.Val187Ala Multiple submitters ⚠
- c.384+6del Single submitter
- c.-4G>T Single submitter
- c.-65+1729G>A Single submitter Fanconi anemia complementation group T
- p.Ala105Ser Single submitter ⚠
- p.Ala105Thr Single submitter ⚠
- p.Ala151Pro Single submitter ⚠
- p.Arg144Gly Single submitter ⚠
- p.Arg152Gly Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn135Ser Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Glu47Gln Single submitter ⚠
- p.Gly170Ser Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.Ile111fs Single submitter
- p.Ile128Thr Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Leu11Arg Single submitter ⚠
- p.Met115Ile Single submitter ⚠
- p.Pro94Gln Single submitter ⚠
- p.Pro94Thr Single submitter ⚠
- p.Ser184Arg Single submitter ⚠
- p.Thr16Ser Single submitter ⚠