RFC2 — 64 ClinVar variants
All ClinVar germline RFC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
8 Benign · 18 Likely benign · 38 Uncertain significance
Full RFC2 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 lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RFC2 p.Ala196Thr Uncertain significance Multiple submitters
- RFC2 p.Ala150Val Uncertain significance Single submitter
- RFC2 p.Ala15Val Uncertain significance Single submitter
- RFC2 p.Arg189Trp Uncertain significance Single submitter
- RFC2 p.Arg91Trp Uncertain significance Single submitter
- RFC2 p.Asp141Gly Uncertain significance Single submitter
- RFC2 p.Gln16Arg Uncertain significance Single submitter
- RFC2 p.Gln346Leu Uncertain significance Single submitter
- RFC2 p.Glu12Gly Uncertain significance Single submitter
- RFC2 p.Glu12Lys Uncertain significance Single submitter
- RFC2 p.Glu329Ala Uncertain significance Single submitter
- RFC2 p.Gly289Cys Uncertain significance Single submitter
- RFC2 p.Gly29Cys Uncertain significance Single submitter
- RFC2 p.Gly52Arg Uncertain significance Single submitter
- RFC2 p.Gly9Ser Uncertain significance Single submitter
- RFC2 p.His287Arg Uncertain significance Single submitter
- RFC2 p.Ile327Arg Uncertain significance Single submitter
- RFC2 p.Ile327Met Uncertain significance Single submitter
- RFC2 p.Leu312Met Uncertain significance Single submitter
- RFC2 p.Lys253Met Uncertain significance Single submitter
- RFC2 p.Met146Val Uncertain significance Single submitter
- RFC2 p.Met158Leu Uncertain significance Single submitter
- RFC2 p.Phe123Leu Uncertain significance Single submitter
- RFC2 p.Pro212Ser Uncertain significance Single submitter
- RFC2 p.Pro22Leu Uncertain significance Single submitter
- RFC2 p.Thr200Pro Uncertain significance Single submitter
- RFC2 p.Val13Gly Uncertain significance Single submitter
- RFC2 p.Val62Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- RFC2 p.Asp216Asn Uncertain significance Single submitter
- RFC2 p.Glu207Lys Benign Single submitter
- RFC2 p.Ile206Thr Uncertain significance Single submitter
- RFC2 p.Ile275Thr Uncertain significance Single submitter
- RFC2 p.Lys347Asn Uncertain significance Single submitter
- RFC2 p.Met325Val Uncertain significance Single submitter
- RFC2 p.Pro351Leu Likely benign Single submitter
- RFC2 p.Thr191Ile Uncertain significance Single submitter
- RFC2 p.Tyr279Cys Uncertain significance Single submitter
- RFC2 p.Val115Ile Uncertain significance Single submitter
All RFC2 variants
Benign 8
- c.759+8C>T Multiple submitters
- p.Arg201= Multiple submitters
- p.His33= Multiple submitters
- p.Thr129= Multiple submitters
- c.184-4G>A Single submitter
- c.226-3C>T Single submitter
- p.Ala5= Single submitter
- p.Glu207Lys Single submitter ⚠
Likely benign 18
- p.Ala232Val Multiple submitters
- c.332+9T>C Single submitter
- c.435-8C>T Single submitter
- p.Ala232= Single submitter
- p.Ala23Ser Single submitter
- p.Asp148= Single submitter
- p.Asp195= Single submitter
- p.Asp276= Single submitter
- p.Glu2= Single submitter
- p.Leu344= Single submitter
- p.Leu36= Single submitter
- p.Leu60= Single submitter
- p.Pro260= Single submitter
- p.Pro351= Single submitter
- p.Pro351Leu Single submitter ⚠
- p.Thr80= Single submitter
- p.Tyr42= Single submitter
- p.Val51= Single submitter
Uncertain significance 38
- p.Ala196Thr Multiple submitters ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala15Val Single submitter ⚠
- p.Arg189Trp Single submitter ⚠
- p.Arg91Trp Single submitter ⚠
- p.Asp141Gly Single submitter ⚠
- p.Asp216Asn Single submitter ⚠
- p.Gln16Arg Single submitter ⚠
- p.Gln346Leu Single submitter ⚠
- p.Glu12Gly Single submitter ⚠
- p.Glu12Lys Single submitter ⚠
- p.Glu329Ala Single submitter ⚠
- p.Gly289Cys Single submitter ⚠
- p.Gly29Cys Single submitter ⚠
- p.Gly52Arg Single submitter ⚠
- p.Gly9Ser Single submitter ⚠
- p.His287Arg Single submitter ⚠
- p.Ile206Thr Single submitter ⚠
- p.Ile275Thr Single submitter ⚠
- p.Ile327Arg Single submitter ⚠
- p.Ile327Met Single submitter ⚠
- p.Leu312Met Single submitter ⚠
- p.Lys253Met Single submitter ⚠
- p.Lys347Asn Single submitter ⚠
- p.Met146Val Single submitter ⚠
- p.Met158Leu Single submitter ⚠
- p.Met325Val Single submitter ⚠
- p.Phe123Leu Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Thr191Ile Single submitter ⚠
- p.Thr200Pro Single submitter ⚠
- p.Thr224Met Single submitter
- p.Tyr279Cys Single submitter ⚠
- p.Tyr290Phe Single submitter
- p.Val115Ile Single submitter ⚠
- p.Val13Gly Single submitter ⚠
- p.Val62Ile Single submitter ⚠