Sugi Variant

Sugi Variant/BRSK2

BRSK2 — 358 ClinVar variants

All ClinVar germline BRSK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 6 Conflicting · 13 Benign · 3 Benign/Likely benign · 120 Likely benign · 182 Uncertain significance

Full BRSK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 151

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 2

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 85

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

Predictors split 62

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

All BRSK2 variants

Pathogenic 15

  • c.1288-2A>G Single submitter autosomal dominant non-syndromic intellectual disability
  • c.530+1G>A Single submitter
  • c.812+2dup Single submitter autosomal dominant non-syndromic intellectual disability
  • c.978-1G>C Single submitter Inborn genetic diseases
  • p.Arg222Ter Single submitter
  • p.Arg437fs Single submitter Inborn genetic diseases
  • p.Asn461Ter Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Asp540fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Cys39Ter Single submitter BRSK2-associated neurodevelopmental disorder
  • p.Glu278Ter Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Glu504Ter Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Leu303fs Single submitter
  • p.Phe233fs Single submitter Inborn genetic diseases
  • p.Ser512Ter Single submitter Inborn genetic diseases
  • p.Val473fs Single submitter autosomal dominant non-syndromic intellectual disability

Pathogenic/Likely pathogenic 1

  • p.Arg313Ter Multiple submitters BRSK2-related neurodevelopmental disorder

Likely pathogenic 18

  • p.Gly28Arg Multiple submitters autosomal dominant non-syndromic intellectual disability
  • c.1226+1G>A Single submitter Inborn genetic diseases
  • c.1940-2A>C Single submitter
  • c.1940-3_1940-2del Single submitter
  • c.1987+2del Single submitter
  • c.564+1G>T Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Asn524fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Glu511fs Single submitter
  • p.Gly212Glu Single submitter
  • p.Ile268fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Leu246fs Single submitter
  • p.Lys44fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Pro184His Single submitter Inborn genetic diseases
  • p.Pro434fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Ser467fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Thr656delinsLysTer Single submitter BRSK2-related neurodevelopmental disorder
  • p.Lys274fs No assertion criteria
  • p.Lys539Asn No assertion criteria Neurodevelopmental delay ⚠

Conflicting classifications of pathogenicity 6

  • c.186+5_186+50del Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Ala158Thr Single submitter autosomal dominant non-syndromic intellectual disability ⚠
  • p.Arg355fs Single submitter autosomal dominant non-syndromic intellectual disability ⚠
  • p.Arg491His Single submitter Inborn genetic diseases ⚠
  • p.Pro580fs Single submitter autosomal dominant non-syndromic intellectual disability ⚠
  • p.Ser556= Single submitter neurodevelopmental disorder

Benign 13

Benign/Likely benign 3

Likely benign 120

Uncertain significance 182