PCNA — 23 ClinVar variants

All ClinVar germline PCNA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →

1 Likely pathogenic · 3 Benign · 8 Likely benign · 11 Uncertain significance

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

⚑ Evidence disagreements 11

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 9

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

Predictors split 2

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

All PCNA variants

Likely pathogenic 1

p.Cys148Ser Multiple submitters ataxia-telangiectasia-like disorder 2

Benign 3

p.Ala242= Multiple submitters
p.Pro234= Multiple submitters
c.222-4C>T Single submitter

Likely benign 8

p.Gln204= Single submitter
p.Ile11= Single submitter
p.Ile87= Single submitter
p.Leu221= Single submitter
p.Leu79= Single submitter
p.Lys14= Single submitter
p.Phe215= Single submitter
p.Thr51= No assertion criteria PCNA-related disorder

Uncertain significance 11

p.Ser228Ile Multiple submitters ataxia-telangiectasia-like disorder 2 ⚠
p.Arg53Gln Single submitter ⚠
p.Asn24Ser Single submitter ⚠
p.Gly56Ser Single submitter ⚠
p.Leu182Phe Single submitter ⚠
p.Leu182Trp Single submitter ⚠
p.Met139Val Single submitter ⚠
p.Ser170Cys Single submitter ⚠
p.Ser223Pro Single submitter ⚠
p.Ser42Leu Single submitter ⚠
p.Val123Ile Single submitter ⚠