Sugi Variant

Sugi Variant/RAD51

RAD51 — 475 ClinVar variants

All ClinVar germline RAD51 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 7 Conflicting · 24 Benign · 5 Benign/Likely benign · 180 Likely benign · 244 Uncertain significance

Full RAD51 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 218

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 166

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 166

Predictors split 50

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

All RAD51 variants

Pathogenic 5

Pathogenic/Likely pathogenic 1

  • p.Ala293Thr Multiple submitters RAD51-related disorder

Likely pathogenic 9

  • p.Glu258Lys Multiple submitters Fanconi anemia complementation group R
  • p.Arg130Ter Single submitter
  • p.Glu18fs Single submitter RAD51-related disorder
  • p.Gly305Glu Single submitter Fanconi anemia complementation group R
  • p.His294Arg Single submitter Fanconi anemia complementation group R
  • p.Pro168Leu Single submitter
  • p.Pro286Leu Single submitter
  • p.Thr197Ile Single submitter Fanconi anemia complementation group R
  • p.Ile292del No assertion criteria Fanconi anemia complementation group R

Conflicting classifications of pathogenicity 7

Benign 24

Benign/Likely benign 5

Likely benign 180

Uncertain significance 244