HMGB1 — 29 ClinVar variants
All ClinVar germline HMGB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
3 Pathogenic · 3 Likely pathogenic · 6 Benign · 5 Likely benign · 12 Uncertain significance
Full HMGB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 4
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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HMGB1 p.Arg24Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGB1 p.Asp196Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGB1 p.Glu186Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGB1 p.Pro9Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 3
The independent predictors disagree with each other — read with care.
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HMGB1 p.Ala170Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGB1 p.Glu198Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
HMGB1 p.Lys30Gln
Uncertain significance
Single submitter
Inborn genetic diseases
All HMGB1 variants
Pathogenic 3
- p.Glu74fs Single submitter
- p.Lys184fs Single submitter brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
- p.Glu186fs No assertion criteria brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Likely pathogenic 3
- p.Glu156Ter Single submitter neurodevelopmental disorder
- p.Thr136fs Single submitter
- p.Tyr16fs Single submitter HMGB1-associated disorder
Benign 6
- c.*2262G>A Multiple submitters
- c.*2181_*2182insTTAA Single submitter
- p.Glu201del Single submitter
- p.Tyr155= Single submitter
- p.Lys65= No assertion criteria HMGB1-related disorder
- p.Phe103= No assertion criteria HMGB1-related disorder
Likely benign 5
- p.Ser181Gly Multiple submitters
- p.Asp193= Single submitter
- p.Ile79= Single submitter
- p.Asp214del No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Gly2= No assertion criteria HMGB1-related disorder
Uncertain significance 12
- c.297-1G>T Single submitter
- p.Ala170Val Single submitter Inborn genetic diseases ⚠
- p.Arg24Pro Single submitter Inborn genetic diseases ⚠
- p.Asp196Glu Single submitter Inborn genetic diseases ⚠
- p.Glu186Gln Single submitter Inborn genetic diseases ⚠
- p.Glu194fs Single submitter HMGB1-related Developmental delay and microcephaly
- p.Glu198Gly Single submitter Inborn genetic diseases ⚠
- p.Glu206del Single submitter Inborn genetic diseases
- p.Gly115fs Single submitter neurodevelopmental disorder
- p.Leu104fs Single submitter
- p.Lys30Gln Single submitter Inborn genetic diseases ⚠
- p.Pro9Leu Single submitter Inborn genetic diseases ⚠