Sugi Variant

Sugi Variant/BCL10

BCL10 — 126 ClinVar variants

All ClinVar germline BCL10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →

19 Pathogenic · 6 Benign · 3 Benign/Likely benign · 47 Likely benign · 51 Uncertain significance

Full BCL10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 47

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 2

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

Predictors lean, ClinVar uncertain 37

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

Predictors split 8

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

All BCL10 variants

Pathogenic 19

  • p.Arg58Ter Single submitter immunodeficiency 37
  • p.Arg88Ter Single submitter immunodeficiency 37
  • p.Asp70fs Single submitter immunodeficiency 37
  • p.Gln73Ter Single submitter immunodeficiency 37
  • p.Pro6fs Single submitter immunodeficiency 37
  • c.57+1G>A No assertion criteria immunodeficiency 37
  • p.Arg58Gly No assertion criteria MALE GERM CELL TUMOR, SOMATIC ⚠
  • p.Asn137fs No assertion criteria follicular lymphoma
  • p.Glu145fs No assertion criteria follicular lymphoma
  • p.Glu212del No assertion criteria follicular lymphoma
  • p.Gly116fs No assertion criteria MALT lymphoma
  • p.Gly78fs No assertion criteria follicular lymphoma
  • p.Ile46fs No assertion criteria T-cell acute lymphoblastic leukemia
  • p.Ile55fs No assertion criteria MALT lymphoma
  • p.Phe143fs No assertion criteria Sezary syndrome
  • p.Ser134fs No assertion criteria follicular lymphoma
  • p.Ser167fs No assertion criteria mesothelioma
  • p.Thr163Met No assertion criteria testicular cancer ⚠
  • p.Val176fs No assertion criteria follicular lymphoma

Benign 6

  • c.347-5T>C Multiple submitters immunodeficiency 37
  • c.57+11C>G Multiple submitters immunodeficiency 37
  • p.Leu8= Multiple submitters immunodeficiency 37
  • c.346+9T>C Single submitter immunodeficiency 37
  • c.58-3dup Single submitter immunodeficiency 37
  • c.*6T>C Single submitter

Benign/Likely benign 3

  • p.Ala5Ser Multiple submitters immunodeficiency 37
  • p.Gly213Glu Multiple submitters immunodeficiency 37
  • p.Leu69= Multiple submitters immunodeficiency 37

Likely benign 47

  • c.346+19C>G Single submitter immunodeficiency 37
  • c.346+6A>G Single submitter immunodeficiency 37
  • c.346+8A>G Single submitter immunodeficiency 37
  • c.346+8dup Single submitter immunodeficiency 37
  • c.347-4G>T Single submitter immunodeficiency 37
  • c.57+13G>A Single submitter immunodeficiency 37
  • c.57+16G>A Single submitter immunodeficiency 37
  • c.57+9C>T Single submitter immunodeficiency 37
  • c.58-18A>G Single submitter immunodeficiency 37
  • c.58-20C>G Single submitter immunodeficiency 37
  • c.58-5T>C Single submitter immunodeficiency 37
  • p.Asn184= Single submitter immunodeficiency 37
  • p.Asp12= Single submitter immunodeficiency 37
  • p.Cys122= Single submitter immunodeficiency 37
  • p.Gln233= Single submitter immunodeficiency 37
  • p.Glu11= Single submitter immunodeficiency 37
  • p.Glu2= Single submitter immunodeficiency 37
  • p.Gly116= Single submitter immunodeficiency 37
  • p.Gly196= Single submitter immunodeficiency 37
  • p.Gly199= Single submitter immunodeficiency 37
  • p.Ile55= Single submitter immunodeficiency 37
  • p.Leu111= Single submitter immunodeficiency 37
  • p.Leu13= Single submitter immunodeficiency 37
  • p.Leu133= Single submitter immunodeficiency 37
  • p.Leu177= Single submitter immunodeficiency 37
  • p.Leu207= Single submitter immunodeficiency 37
  • p.Leu223= Single submitter immunodeficiency 37
  • p.Leu24= Single submitter immunodeficiency 37
  • p.Leu28= Single submitter immunodeficiency 37
  • p.Leu41= Single submitter immunodeficiency 37
  • p.Leu47= Single submitter immunodeficiency 37
  • p.Lys18= Single submitter immunodeficiency 37
  • p.Lys44= Single submitter immunodeficiency 37
  • p.Lys98= Single submitter immunodeficiency 37
  • p.Ser120= Single submitter immunodeficiency 37
  • p.Ser134= Single submitter immunodeficiency 37
  • p.Thr130= Single submitter immunodeficiency 37
  • p.Thr14= Single submitter immunodeficiency 37
  • p.Thr162= Single submitter immunodeficiency 37
  • p.Thr163= Single submitter immunodeficiency 37
  • p.Thr229= Single submitter immunodeficiency 37
  • p.Thr52= Single submitter immunodeficiency 37
  • p.Thr59= Single submitter immunodeficiency 37
  • p.Thr9= Single submitter immunodeficiency 37
  • p.Tyr154= Single submitter immunodeficiency 37
  • p.Val26= Single submitter immunodeficiency 37
  • p.Leu95= No assertion criteria BCL10-related disorder

Uncertain significance 51