Sugi Variant

Sugi Variant/TAF2

TAF2 — 332 ClinVar variants

All ClinVar germline TAF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 3 Conflicting · 27 Benign · 4 Benign/Likely benign · 121 Likely benign · 172 Uncertain significance

Full TAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

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 3

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

Predictors lean, ClinVar uncertain 96

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

Predictors split 50

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

All TAF2 variants

Pathogenic 1

  • p.Trp649Arg No assertion criteria microcephaly-thin corpus callosum-intellectual disability syndrome

Pathogenic/Likely pathogenic 1

  • p.Tyr794Asn No assertion criteria microcephaly-thin corpus callosum-intellectual disability syndrome

Likely pathogenic 3

  • c.2768+1G>T Single submitter microcephaly-thin corpus callosum-intellectual disability syndrome
  • c.793-2A>G Single submitter microcephaly-thin corpus callosum-intellectual disability syndrome
  • p.Ala872fs Single submitter

Conflicting classifications of pathogenicity 3

  • p.Ile53Val Single submitter microcephaly-thin corpus callosum-intellectual disability syndrome ⚠
  • p.Leu1107Arg Single submitter microcephaly-thin corpus callosum-intellectual disability syndrome ⚠
  • p.Pro844Leu Single submitter microcephaly-thin corpus callosum-intellectual disability syndrome ⚠

Benign 27

  • c.1568+27G>A Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • c.1684-5A>T Multiple submitters
  • c.2112+14C>T Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • c.2254-17dup Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • c.418+40C>T Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • c.792+14T>C Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • p.Arg1190= Multiple submitters
  • p.Asn997= Multiple submitters
  • p.Gln750= Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • p.Gly218= Multiple submitters
  • p.Gly421Glu Multiple submitters
  • p.Leu441= Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • p.Lys1157= Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • p.Ser1122Asn Multiple submitters
  • p.Ser447Thr Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • p.Thr1139Ala Multiple submitters
  • p.Thr738= Multiple submitters
  • p.Thr773= Multiple submitters microcephaly-thin corpus callosum-intellectual disability syndrome
  • c.1684-15dup Single submitter
  • c.1684-6del Single submitter
  • c.2254-11_2254-10dup Single submitter
  • c.2364+13del Single submitter
  • c.300-7del Single submitter
  • c.300-7dup Single submitter
  • p.Ser165Asn Single submitter
  • p.Ser447= Single submitter
  • p.Ser697= Single submitter

Benign/Likely benign 4

Likely benign 121

Uncertain significance 172