Sugi Variant

Sugi Variant/APC2

APC2 — 1226 ClinVar variants

All ClinVar germline APC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 650 flagged for review →

13 Pathogenic · 15 Likely pathogenic · 14 Conflicting · 42 Benign · 15 Benign/Likely benign · 417 Likely benign · 710 Uncertain significance

Full APC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 650

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 531

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 531

Predictors split 108

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

All APC2 variants

Pathogenic 13

  • p.Ala340fs Single submitter
  • p.Asp392fs Single submitter
  • p.Glu220fs Single submitter APC2-related disorder
  • p.Leu581fs Single submitter
  • p.Ser552fs Single submitter cortical dysplasia, complex, with other brain malformations 10
  • p.Thr565fs Single submitter
  • p.Tyr465Ter Single submitter
  • p.Ala2217fs No assertion criteria cortical dysplasia, complex, with other brain malformations 10
  • p.Gln361Ter No assertion criteria cortical dysplasia, complex, with other brain malformations 10
  • p.Leu947fs No assertion criteria cortical dysplasia, complex, with other brain malformations 10
  • p.Lys1734fs No assertion criteria intellectual developmental disorder, autosomal recessive 74
  • p.Pro2207Leu No assertion criteria intellectual developmental disorder, autosomal recessive 74 ⚠
  • p.Ser246Ter No assertion criteria cortical dysplasia, complex, with other brain malformations 10

Likely pathogenic 15

  • c.1853+1G>A Single submitter
  • p.Arg1133Ter Single submitter cortical dysplasia, complex, with other brain malformations 10
  • p.Cys313fs Single submitter cortical dysplasia, complex, with other brain malformations 10
  • p.Gln267fs Single submitter intellectual developmental disorder, autosomal recessive 74
  • p.Glu137fs Single submitter intellectual developmental disorder, autosomal recessive 74
  • p.Glu2213fs Single submitter
  • p.Glu254fs Single submitter cortical dysplasia, complex, with other brain malformations 10
  • p.Glu977fs Single submitter cortical dysplasia, complex, with other brain malformations 10
  • p.His734fs Single submitter APC2-related disorder
  • p.Leu718fs Single submitter
  • p.Pro2062fs Single submitter intellectual developmental disorder, autosomal recessive 74
  • p.Thr259fs Single submitter APC2-related disorder
  • c.1638+1G>C No assertion criteria APC2-related disorder
  • p.Cys974fs No assertion criteria APC2-related disorder
  • p.Ile222Thr No assertion criteria esophageal atresia/tracheoesophageal fistula

Conflicting classifications of pathogenicity 14

Benign 42

Benign/Likely benign 15

Likely benign 417

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

Uncertain significance 710

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