Sugi Variant

Sugi Variant/TSEN2

TSEN2 — 338 ClinVar variants

All ClinVar germline TSEN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 20 Conflicting · 48 Benign · 6 Benign/Likely benign · 91 Likely benign · 147 Uncertain significance

Full TSEN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 16

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

All TSEN2 variants

Pathogenic 9

Pathogenic/Likely pathogenic 1

  • p.Tyr19Ter Multiple submitters pontocerebellar hypoplasia type 2B

Likely pathogenic 16

  • c.1099+1G>A Multiple submitters pontocerebellar hypoplasia
  • c.960+1_960+5del Multiple submitters pontocerebellar hypoplasia
  • p.Gln118fs Multiple submitters pontocerebellar hypoplasia
  • c.1100-2A>C Single submitter
  • c.1100-5T>A Single submitter hemolytic-uremic syndrome
  • c.1137-2A>G Single submitter
  • c.190-2A>G Single submitter
  • p.Arg232fs Single submitter pontocerebellar hypoplasia type 2B
  • p.Arg350Ter Single submitter pontocerebellar hypoplasia type 2B
  • p.Asn48del Single submitter pontocerebellar hypoplasia type 2B
  • p.Cys421fs Single submitter pontocerebellar hypoplasia type 2B
  • p.Gln194Ter Single submitter pontocerebellar hypoplasia type 2B
  • p.Gln446Arg Single submitter pontocerebellar hypoplasia type 2B ⚠
  • p.Gly67fs Single submitter pontocerebellar hypoplasia type 2B
  • p.Tyr346Cys Single submitter pontocerebellar hypoplasia type 2B
  • p.Glu302Lys No assertion criteria pontocerebellar hypoplasia type 2B

Conflicting classifications of pathogenicity 20

  • c.1136+4C>T Single submitter
  • c.1248+15G>C Single submitter pontocerebellar hypoplasia
  • c.961-14G>A Single submitter pontocerebellar hypoplasia
  • p.Arg103= Single submitter
  • p.Arg126Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg187Pro Single submitter pontocerebellar hypoplasia ⚠
  • p.Arg452Ter Single submitter pontocerebellar hypoplasia
  • p.Asn174= Single submitter pontocerebellar hypoplasia
  • p.Asp463= Single submitter pontocerebellar hypoplasia
  • p.Glu256= Single submitter pontocerebellar hypoplasia
  • p.His219= Single submitter pontocerebellar hypoplasia
  • p.Ile424= Single submitter pontocerebellar hypoplasia type 2B
  • p.Leu368= Single submitter pontocerebellar hypoplasia
  • p.Lys320Ter Single submitter pontocerebellar hypoplasia
  • p.Lys330= Single submitter pontocerebellar hypoplasia
  • p.Lys35= Single submitter pontocerebellar hypoplasia
  • p.Lys444= Single submitter pontocerebellar hypoplasia
  • p.Thr338Arg Single submitter pontocerebellar hypoplasia ⚠
  • p.Tyr309Cys Single submitter pontocerebellar hypoplasia ⚠
  • p.Tyr343= Single submitter pontocerebellar hypoplasia

Benign 48

Benign/Likely benign 6

Likely benign 91

Uncertain significance 147