PRRC2A — 458 ClinVar variants

All ClinVar germline PRRC2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 369 flagged for review →

41 Benign · 41 Likely benign · 376 Uncertain significance

Full PRRC2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 369

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 lean, ClinVar uncertain 285

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 285

Predictors split 84

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

All PRRC2A variants

Benign 41

  • p.Arg804Cys Single submitter
  • p.Gly1285Ala Single submitter
  • p.Phe2083Ser Single submitter
  • c.5624+9C>T No assertion criteria PRRC2A-related disorder
  • p.508PAAP[1] No assertion criteria PRRC2A-related disorder
  • p.Ala1283Thr No assertion criteria PRRC2A-related disorder
  • p.Arg1036= No assertion criteria PRRC2A-related disorder
  • p.Arg1370= No assertion criteria PRRC2A-related disorder
  • p.Arg1563Gln No assertion criteria PRRC2A-related disorder
  • p.Arg1740His No assertion criteria PRRC2A-related disorder
  • p.Arg2075Trp No assertion criteria PRRC2A-related disorder
  • p.Arg904= No assertion criteria PRRC2A-related disorder
  • p.Asp1766Gly No assertion criteria PRRC2A-related disorder
  • p.Gln1856= No assertion criteria PRRC2A-related disorder
  • p.Gly1048= No assertion criteria PRRC2A-related disorder
  • p.Gly1416Ser No assertion criteria PRRC2A-related disorder
  • p.Gly1968= No assertion criteria PRRC2A-related disorder
  • p.Gly212= No assertion criteria PRRC2A-related disorder
  • p.Gly354= No assertion criteria PRRC2A-related disorder
  • p.Gly793del No assertion criteria PRRC2A-related disorder
  • p.Ile937Met No assertion criteria PRRC2A-related disorder
  • p.Leu1503Pro No assertion criteria PRRC2A-related disorder
  • p.Leu1895Val No assertion criteria PRRC2A-related disorder
  • p.Leu1980Ile No assertion criteria PRRC2A-related disorder
  • p.Pro106Leu No assertion criteria PRRC2A-related disorder
  • p.Pro1883= No assertion criteria PRRC2A-related disorder
  • p.Pro2006Ser No assertion criteria PRRC2A-related disorder
  • p.Pro2057= No assertion criteria PRRC2A-related disorder
  • p.Pro2130Leu No assertion criteria PRRC2A-related disorder
  • p.Pro515Leu No assertion criteria PRRC2A-related disorder
  • p.Pro559Ser No assertion criteria PRRC2A-related disorder
  • p.Pro696= No assertion criteria PRRC2A-related disorder
  • p.Pro698= No assertion criteria PRRC2A-related disorder
  • p.Ser1219Tyr No assertion criteria PRRC2A-related disorder
  • p.Ser1407Asn No assertion criteria PRRC2A-related disorder
  • p.Ser163Leu No assertion criteria PRRC2A-related disorder ⚠
  • p.Ser1808Phe No assertion criteria PRRC2A-related disorder
  • p.Ser1905Pro No assertion criteria PRRC2A-related disorder
  • p.Thr544Lys No assertion criteria PRRC2A-related disorder
  • p.Val1774Met No assertion criteria PRRC2A-related disorder
  • p.Val792= No assertion criteria PRRC2A-related disorder

Likely benign 41

Uncertain significance 376

Showing the top 300 by review status; the full set is in the sitemap.