Sugi Variant

Sugi Variant/CYFIP2

CYFIP2 — 1083 ClinVar variants

All ClinVar germline CYFIP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 398 flagged for review →

6 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 33 Conflicting · 66 Benign · 12 Benign/Likely benign · 549 Likely benign · 401 Uncertain significance

Full CYFIP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 398

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 15

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

Predictors lean, ClinVar uncertain 188

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 188

Predictors split 195

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 195

All CYFIP2 variants

Pathogenic 6

  • p.Asp699His Multiple submitters developmental and epileptic encephalopathy, 65
  • p.Glu640Lys Multiple submitters intellectual disability
  • p.Ala455Pro Single submitter developmental and epileptic encephalopathy, 65
  • p.Ile639Met Single submitter developmental and epileptic encephalopathy, 65
  • c.3594+1G>T No assertion criteria developmental and epileptic encephalopathy, 65
  • p.Gln700Arg No assertion criteria developmental and epileptic encephalopathy, 65

Pathogenic/Likely pathogenic 2

  • p.Arg87Cys Multiple submitters Seizure
  • p.Arg87Pro Multiple submitters developmental and epileptic encephalopathy, 65

Likely pathogenic 14

  • c.2156+2T>G Single submitter autism
  • p.Ala455Thr Single submitter developmental and epileptic encephalopathy, 65
  • p.Arg87Leu Single submitter developmental and epileptic encephalopathy, 65
  • p.Arg87Ser Single submitter developmental and epileptic encephalopathy, 65
  • p.Asp296Val Single submitter developmental and epileptic encephalopathy, 65
  • p.Asp699Gly Single submitter developmental and epileptic encephalopathy, 65
  • p.Asp699Tyr Single submitter developmental and epileptic encephalopathy, 65
  • p.Cys697Arg Single submitter developmental and epileptic encephalopathy, 65
  • p.Glu689Gly Single submitter developmental and epileptic encephalopathy, 65
  • p.Ile639Phe Single submitter
  • p.Leu115Pro Single submitter
  • p.Tyr108His Single submitter Global developmental delay ⚠
  • p.Tyr703Cys Single submitter
  • p.Val551Leu Single submitter developmental and epileptic encephalopathy, 65 ⚠

Conflicting classifications of pathogenicity 33

Benign 66

Benign/Likely benign 12

  • c.1524-9C>T Multiple submitters developmental and epileptic encephalopathy, 65
  • c.3447-7C>G Multiple submitters
  • p.Ala1051= Multiple submitters developmental and epileptic encephalopathy, 65
  • p.Ala146= Multiple submitters developmental and epileptic encephalopathy, 65
  • p.Arg1041Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1075= Multiple submitters
  • p.Glu433= Multiple submitters developmental and epileptic encephalopathy, 65
  • p.Leu756= Multiple submitters Inborn genetic diseases
  • p.Leu791= Multiple submitters
  • p.Phe390= Multiple submitters
  • p.Ser1227= Multiple submitters
  • p.Ser207= Multiple submitters

Likely benign 549

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

Uncertain significance 401

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