Sugi Variant

Sugi Variant/TNFSF11

TNFSF11 — 134 ClinVar variants

All ClinVar germline TNFSF11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 6 Conflicting · 11 Benign · 2 Benign/Likely benign · 45 Likely benign · 65 Uncertain significance

Full TNFSF11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 38

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.

Predictors lean, ClinVar uncertain 25

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

Predictors split 11

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

All TNFSF11 variants

Pathogenic 4

  • p.Ala310fs Single submitter autosomal recessive osteopetrosis 2
  • c.532+4_532+8del No assertion criteria autosomal recessive osteopetrosis 2
  • p.Met199Lys No assertion criteria autosomal recessive osteopetrosis 2
  • p.Val277fs No assertion criteria autosomal recessive osteopetrosis 2

Likely pathogenic 1

  • p.Arg223Ter Single submitter autosomal recessive osteopetrosis 2

Conflicting classifications of pathogenicity 6

  • c.533-8C>T Single submitter autosomal recessive osteopetrosis 2
  • p.Ala72Thr Single submitter autosomal recessive osteopetrosis 2 ⚠
  • p.Gly178= Single submitter autosomal recessive osteopetrosis 2
  • p.Leu206= Single submitter autosomal recessive osteopetrosis 2
  • p.Pro33Gln Single submitter autosomal recessive osteopetrosis 2 ⚠
  • p.Ser197= Single submitter

Benign 11

  • c.387+14G>A Multiple submitters autosomal recessive osteopetrosis 2
  • c.*264G>T Multiple submitters autosomal recessive osteopetrosis 2
  • c.*48T>C Multiple submitters autosomal recessive osteopetrosis 2
  • c.*948G>T Multiple submitters autosomal recessive osteopetrosis 2
  • p.Phe308= Multiple submitters autosomal recessive osteopetrosis 2
  • p.Pro42= Multiple submitters autosomal recessive osteopetrosis 2
  • c.220-303T>G Single submitter
  • c.-1+2150T>C Single submitter
  • c.*383C>T Single submitter autosomal recessive osteopetrosis 2
  • c.*704G>A Single submitter autosomal recessive osteopetrosis 2
  • c.*742G>A Single submitter autosomal recessive osteopetrosis 2

Benign/Likely benign 2

Likely benign 45

Uncertain significance 65