Sugi Variant

Sugi Variant/HMGA2

HMGA2 — 46 ClinVar variants

All ClinVar germline HMGA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →

5 Pathogenic · 4 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 11 Likely benign · 22 Uncertain significance

Full HMGA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 13

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 7

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 6

The independent predictors disagree with each other — read with care.

All HMGA2 variants

Pathogenic 5

  • p.Gln18fs Single submitter Silver-Russell syndrome 5
  • p.Gln65Ter Single submitter Silver-Russell syndrome 5
  • p.Lys46fs Single submitter Silver-Russell syndrome 5
  • c.283-6_283del No assertion criteria Silver-Russell syndrome 5
  • p.Ala64fs No assertion criteria Silver-Russell syndrome 5

Likely pathogenic 4

  • c.112-1G>A Single submitter Silver-Russell syndrome 5
  • c.112-2A>G Single submitter Silver-Russell syndrome 5
  • p.Ala15fs Single submitter Silver-Russell syndrome 5
  • p.Glu42fs Single submitter HMGA2-related disorders

Benign 3

Benign/Likely benign 1

  • c.199-8A>G Multiple submitters Silver-Russell syndrome 5

Likely benign 11

Uncertain significance 22