PDCD1 — 36 ClinVar variants
All ClinVar germline PDCD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
17 Benign · 6 Likely benign · 13 Uncertain significance
Full PDCD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDCD1 p.Ala13Val Uncertain significance Single submitter
- PDCD1 p.Arg194Gln Uncertain significance Single submitter
- PDCD1 p.Arg86Cys Uncertain significance Single submitter
- PDCD1 p.Glu211Asp Uncertain significance Single submitter
- PDCD1 p.Ser285Phe Uncertain significance Single submitter
- PDCD1 p.Val11Ile Uncertain significance Single submitter
- PDCD1 p.Val171Ala Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PDCD1 variants
Benign 17
- c.437-115G>A Multiple submitters
- c.593-56C>G Multiple submitters
- c.627+189G>A Multiple submitters
- c.628-110A>G Multiple submitters
- c.76+126G>C Multiple submitters
- c.76+15C>T Multiple submitters
- c.*889G>A Multiple submitters
- p.Ala215Val Multiple submitters
- p.Ala268= Multiple submitters
- c.593-61dup Single submitter
- c.627+252C>T Single submitter
- c.76+10G>A Single submitter
- c.76+241_76+242insTTTGGGCAGGTGACTGCCCAAAG Single submitter
- c.77-180G>C Single submitter
- c.77-218T>C Single submitter
- c.77-287del Single submitter
- c.627+189G>C No assertion criteria RECLASSIFIED - PDCD1 POLYMORPHISM
Likely benign 6
- p.Arg114Gln Single submitter
- p.Arg272Gln Single submitter
- p.His107= Single submitter
- c.436+10C>T No assertion criteria PDCD1-related disorder
- c.437-8C>T No assertion criteria PDCD1-related disorder
- p.Pro160= No assertion criteria PDCD1-related disorder
Uncertain significance 13
- p.Ala13Val Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg139Gln Single submitter ⚠
- p.Arg139Trp Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Asn116Ile Single submitter ⚠
- p.Glu211Asp Single submitter ⚠
- p.Gly176Cys Single submitter ⚠
- p.Ser285Phe Single submitter ⚠
- p.Val110Met Single submitter
- p.Val11Ile Single submitter ⚠
- p.Val171Ala Single submitter ⚠