PABPC1 — 39 ClinVar variants
All ClinVar germline PABPC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 3 Benign · 1 Benign/Likely benign · 8 Likely benign · 25 Uncertain significance
Full PABPC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PABPC1 p.Ala11Val Uncertain significance Single submitter
- PABPC1 p.Ala421Val Uncertain significance Single submitter
- PABPC1 p.Ala498Gly Uncertain significance Single submitter
- PABPC1 p.Ala499Thr Uncertain significance Single submitter
- PABPC1 p.Ala626Thr Uncertain significance Single submitter
- PABPC1 p.Arg186Ser Uncertain significance Single submitter
- PABPC1 p.Arg83Cys Uncertain significance Single submitter
- PABPC1 p.Phe59Leu Uncertain significance Single submitter
-
PABPC1 p.Pro20Ser
Uncertain significance
Single submitter
neurodevelopmental disorder
- PABPC1 p.Pro424Ser Uncertain significance Single submitter
- PABPC1 p.Pro468Ser Uncertain significance Single submitter
- PABPC1 p.Pro520Thr Uncertain significance Single submitter
- PABPC1 p.Pro634Ala Uncertain significance Single submitter
- PABPC1 p.Thr635Ile Uncertain significance Single submitter
- PABPC1 p.Tyr422Phe Uncertain significance Single submitter
- PABPC1 p.Val508Ile Uncertain significance Single submitter
-
PABPC1 p.Gly123Cys
Uncertain significance
No assertion criteria
teratoma
Predictors split 5
The independent predictors disagree with each other — read with care.
All PABPC1 variants
Pathogenic 1
- p.Leu562Ser No assertion criteria Pulmonary artery atresia
Likely pathogenic 1
- p.Asp45Gly Single submitter intellectual disability
Benign 3
- c.1688-8G>A Multiple submitters
- p.Gln430= Multiple submitters
- c.739-18dup Single submitter
Benign/Likely benign 1
- c.388-4C>T Multiple submitters
Likely benign 8
- p.Thr416Ser Single submitter
- p.Thr631= Single submitter
- p.Asn354= No assertion criteria PABPC1-related condition
- p.Glu189= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Glu313fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Lys312fs No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Thr319Ile No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Val392= No assertion criteria PABPC1-related condition
Uncertain significance 25
- c.972+1G>A Single submitter
- p.Ala11Val Single submitter ⚠
- p.Ala349fs Single submitter
- p.Ala421Val Single submitter ⚠
- p.Ala498Gly Single submitter ⚠
- p.Ala499Thr Single submitter ⚠
- p.Ala572Val Single submitter ⚠
- p.Ala623Val Single submitter ⚠
- p.Ala626Thr Single submitter ⚠
- p.Arg186Ser Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Leu594del Single submitter
- p.Phe59Leu Single submitter ⚠
- p.Pro20Ser Single submitter neurodevelopmental disorder ⚠
- p.Pro216Arg Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro468Ser Single submitter ⚠
- p.Pro520Thr Single submitter ⚠
- p.Pro634Ala Single submitter ⚠
- p.Ser4Arg Single submitter ⚠
- p.Thr635Ile Single submitter ⚠
- p.Tyr422Phe Single submitter ⚠
- p.Val508Ile Single submitter ⚠
- p.Val539Ile Single submitter ⚠
- p.Gly123Cys No assertion criteria teratoma ⚠