Sugi Variant

Sugi Variant/DNA2

DNA2 — 989 ClinVar variants

All ClinVar germline DNA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 467 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 25 Conflicting · 80 Benign · 20 Benign/Likely benign · 312 Likely benign · 534 Uncertain significance

Full DNA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 467

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 agree, ClinVar conflicts 11

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 242

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 242

Predictors split 214

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 214

All DNA2 variants

Pathogenic 4

Pathogenic/Likely pathogenic 3

  • c.588-2214A>G Multiple submitters Rothmund-Thomson syndrome
  • p.Ile571fs Multiple submitters Rothmund-Thomson syndrome
  • c.3114+6del No assertion criteria Seckel syndrome 8

Likely pathogenic 11

  • c.73_74+10del Multiple submitters mitochondrial DNA deletion syndrome with progressive myopathy
  • p.Ser640Leu Multiple submitters mitochondrial DNA deletion syndrome with progressive myopathy ⚠
  • c.1057+1G>A Single submitter
  • c.441+1G>A Single submitter mitochondrial DNA deletion syndrome with progressive myopathy
  • c.74+4A>C Single submitter Seckel syndrome 8
  • p.Gln501Ter Single submitter Autosomal recessive DNA2-related disorders
  • p.Glu63fs Single submitter
  • p.Leu48Pro Single submitter Rothmund-Thomson syndrome
  • p.Thr1005Ile Single submitter mitochondrial DNA deletion syndrome with progressive myopathy
  • p.Tyr606fs Single submitter
  • p.Gln769Ter No assertion criteria

Conflicting classifications of pathogenicity 25

Benign 80

Benign/Likely benign 20

Likely benign 312

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 534

Showing the top 300 by review status; the full set is in the sitemap.