TRA2B — 31 ClinVar variants
All ClinVar germline TRA2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
7 Pathogenic · 2 Likely benign · 22 Uncertain significance
Full TRA2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TRA2B p.Ala17Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRA2B p.Arg74His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRA2B p.Arg82His
Uncertain significance
Single submitter
Inborn genetic diseases
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TRA2B p.Asn8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRA2B p.Asp257Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRA2B p.His98Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRA2B p.Ser266Phe Uncertain significance Single submitter
-
TRA2B p.Ser270Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRA2B p.Ser60Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRA2B p.Tyr151His Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All TRA2B variants
Pathogenic 7
- c.170+1G>A Single submitter TRA2B-associated epileptic encephalopathy
- p.Gln7Ter Single submitter TRA2B-related condition
- p.Thr201Met Single submitter
- c.170+1del No assertion criteria Ramond-Elliott neurodevelopmental syndrome
- p.Met1Arg No assertion criteria Ramond-Elliott neurodevelopmental syndrome
- p.Met1del No assertion criteria Ramond-Elliott neurodevelopmental syndrome
- p.Met1Val No assertion criteria Ramond-Elliott neurodevelopmental syndrome
Likely benign 2
- p.Arg261= Single submitter Inborn genetic diseases
- p.Ser20Thr Single submitter
Uncertain significance 22
- c.171-2A>G Single submitter TRA2B-related disorder
- c.782+5G>A Single submitter
- c.856+1_856+2dup Single submitter
- p.Ala17Pro Single submitter Inborn genetic diseases ⚠
- p.Arg15fs Single submitter
- p.Arg74His Single submitter Inborn genetic diseases ⚠
- p.Arg82His Single submitter Inborn genetic diseases ⚠
- p.Arg91Cys Single submitter Inborn genetic diseases ⚠
- p.Asn8Thr Single submitter Inborn genetic diseases ⚠
- p.Asp146Asn Single submitter Inborn genetic diseases
- p.Asp257Glu Single submitter Inborn genetic diseases ⚠
- p.His94fs Single submitter
- p.His98Arg Single submitter Inborn genetic diseases ⚠
- p.Met101Thr Single submitter ⚠
- p.Met1fs Single submitter
- p.Ser237fs Single submitter
- p.Ser266Phe Single submitter ⚠
- p.Ser270Thr Single submitter Inborn genetic diseases ⚠
- p.Ser37Cys Single submitter ⚠
- p.Ser60Thr Single submitter Inborn genetic diseases ⚠
- p.Tyr151His Single submitter ⚠
- p.Tyr230Cys Single submitter Inborn genetic diseases ⚠