PRDM9 — 170 ClinVar variants

All ClinVar germline PRDM9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

3 Pathogenic · 11 Benign · 1 Benign/Likely benign · 19 Likely benign · 136 Uncertain significance

Full PRDM9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 41

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

Predictors split 102

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

All PRDM9 variants

Pathogenic 3

  • p.Arg77Ter Single submitter Genetic non-acquired premature ovarian failure
  • p.Ile213Ser Single submitter Genetic non-acquired premature ovarian failure ⚠
  • p.Lys226Met Single submitter Genetic non-acquired premature ovarian failure ⚠

Benign 11

Benign/Likely benign 1

Likely benign 19

Uncertain significance 136