AGR2 — 32 ClinVar variants
All ClinVar germline AGR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
3 Pathogenic · 6 Likely pathogenic · 1 Likely benign · 22 Uncertain significance
Full AGR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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AGR2 p.His117Tyr
Likely pathogenic
Single submitter
respiratory infections, recurrent, and failure to thrive with or without diarrhea
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGR2 p.Arg21Ile Uncertain significance Single submitter
- AGR2 p.Cys81Trp Uncertain significance Single submitter
- AGR2 p.His77Gln Uncertain significance Single submitter
- AGR2 p.Leu52Val Uncertain significance Single submitter
- AGR2 p.Phe9Leu Uncertain significance Single submitter
- AGR2 p.Pro120Ala Uncertain significance Single submitter
- AGR2 p.Pro120Thr Uncertain significance Single submitter
- AGR2 p.Pro133Thr Uncertain significance Single submitter
- AGR2 p.Thr18Ser Uncertain significance Single submitter
- AGR2 p.Tyr17His Uncertain significance Single submitter
- AGR2 p.Val125Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- AGR2 p.Arg148Ser Uncertain significance Single submitter
- AGR2 p.Asp32His Uncertain significance Single submitter
- AGR2 p.Leu106Val Uncertain significance Single submitter
- AGR2 p.Leu12Phe Uncertain significance Single submitter
- AGR2 p.Leu135Val Uncertain significance Single submitter
- AGR2 p.Met129Ile Uncertain significance Single submitter
- AGR2 p.Thr43Ile Uncertain significance Single submitter
-
AGR2 p.Tyr111Cys
Uncertain significance
Single submitter
respiratory infections, recurrent, and failure to thrive with or without diarrhea
- AGR2 p.Val90Met Uncertain significance Single submitter
All AGR2 variants
Pathogenic 3
- p.His83fs Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea
- c.330+1G>T No assertion criteria respiratory infections, recurrent, and failure to thrive with or without diarrhea
- p.Gly143Glu No assertion criteria respiratory infections, recurrent, and failure to thrive with or without diarrhea
Likely pathogenic 6
- c.256+2T>C Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea
- c.257-1G>C Single submitter Respiratory ciliopathies including non-CF bronchiectasis
- p.Asp35fs Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea
- p.His117Tyr Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea ⚠
- p.Pro71Thr Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea
- p.Trp54Ter Single submitter Respiratory ciliopathies including non-CF bronchiectasis
Likely benign 1
- p.Arg37Gln Single submitter
Uncertain significance 22
- p.Arg148Ser Single submitter ⚠
- p.Arg21Ile Single submitter ⚠
- p.Asp32fs Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea
- p.Asp32His Single submitter ⚠
- p.Cys81Trp Single submitter ⚠
- p.His77Gln Single submitter ⚠
- p.Leu106Val Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu135Val Single submitter ⚠
- p.Leu52Val Single submitter ⚠
- p.Met129Ile Single submitter ⚠
- p.Phe9Leu Single submitter ⚠
- p.Pro120Ala Single submitter ⚠
- p.Pro120Thr Single submitter ⚠
- p.Pro133Thr Single submitter ⚠
- p.Thr18Ser Single submitter ⚠
- p.Thr43Ile Single submitter ⚠
- p.Tyr111Cys Single submitter respiratory infections, recurrent, and failure to thrive with or without diarrhea ⚠
- p.Tyr17His Single submitter ⚠
- p.Val125Ala Single submitter ⚠
- p.Val90Met Single submitter ⚠
- c.331-1G>A No assertion criteria AGR2-related disorder