RFC5 — 34 ClinVar variants
All ClinVar germline RFC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely benign · 33 Uncertain significance
Full RFC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RFC5 p.Ala127Thr Uncertain significance Single submitter
- RFC5 p.Arg173Gln Uncertain significance Single submitter
- RFC5 p.Arg173Trp Uncertain significance Single submitter
- RFC5 p.Arg185Cys Uncertain significance Single submitter
- RFC5 p.Arg215Ser Uncertain significance Single submitter
- RFC5 p.Asn249Ser Uncertain significance Single submitter
- RFC5 p.Gln9Arg Uncertain significance Single submitter
- RFC5 p.Glu191Asp Uncertain significance Single submitter
- RFC5 p.Glu318Lys Uncertain significance Single submitter
- RFC5 p.Gly240Arg Uncertain significance Single submitter
- RFC5 p.His300Asn Uncertain significance Single submitter
- RFC5 p.Ile250Val Uncertain significance Single submitter
- RFC5 p.Ile320Asn Uncertain significance Single submitter
- RFC5 p.Leu53Val Uncertain significance Single submitter
- RFC5 p.Lys46Thr Uncertain significance Single submitter
- RFC5 p.Met202Val Uncertain significance Single submitter
- RFC5 p.Ser107Asn Uncertain significance Single submitter
- RFC5 p.Ser42Asn Uncertain significance Single submitter
- RFC5 p.Ser4Thr Uncertain significance Single submitter
- RFC5 p.Thr170Met Uncertain significance Single submitter
- RFC5 p.Tyr157Cys Uncertain significance Single submitter
- RFC5 p.Val230Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- RFC5 p.Ala129Thr Uncertain significance Single submitter
- RFC5 p.Arg311Ser Uncertain significance Single submitter
- RFC5 p.Arg52Leu Uncertain significance Single submitter
- RFC5 p.Phe145Ser Uncertain significance Single submitter
- RFC5 p.Phe227Leu Uncertain significance Single submitter
- RFC5 p.Val183Phe Uncertain significance Single submitter
- RFC5 p.Val235Ala Uncertain significance Single submitter
All RFC5 variants
Likely benign 1
- p.Asn49Ser Single submitter
Uncertain significance 33
- p.Ala127Thr Single submitter ⚠
- p.Ala129Thr Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg173Trp Single submitter ⚠
- p.Arg185Cys Single submitter ⚠
- p.Arg185His Single submitter
- p.Arg215Ser Single submitter ⚠
- p.Arg311Ser Single submitter ⚠
- p.Arg52Leu Single submitter ⚠
- p.Asn249Ser Single submitter ⚠
- p.Gln9Arg Single submitter ⚠
- p.Glu191Asp Single submitter ⚠
- p.Glu232Lys Single submitter
- p.Glu318Lys Single submitter ⚠
- p.Gly240Arg Single submitter ⚠
- p.His300Asn Single submitter ⚠
- p.Ile250Val Single submitter ⚠
- p.Ile320Asn Single submitter ⚠
- p.Leu53Val Single submitter ⚠
- p.Lys46Thr Single submitter ⚠
- p.Lys75Thr Single submitter
- p.Met202Val Single submitter ⚠
- p.Phe145Ser Single submitter ⚠
- p.Phe227Leu Single submitter ⚠
- p.Ser107Asn Single submitter ⚠
- p.Ser42Asn Single submitter ⚠
- p.Ser4Thr Single submitter ⚠
- p.Ser85Phe Single submitter
- p.Thr170Met Single submitter ⚠
- p.Tyr157Cys Single submitter ⚠
- p.Val183Phe Single submitter ⚠
- p.Val230Met Single submitter ⚠
- p.Val235Ala Single submitter ⚠