AGPAT3 — 38 ClinVar variants
All ClinVar germline AGPAT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Pathogenic · 1 Benign · 5 Likely benign · 31 Uncertain significance
Full AGPAT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGPAT3 p.Ala223Thr Uncertain significance Single submitter
- AGPAT3 p.Ala283Val Uncertain significance Single submitter
- AGPAT3 p.Arg161His Uncertain significance Single submitter
- AGPAT3 p.Arg186His Uncertain significance Single submitter
- AGPAT3 p.Arg219Gln Uncertain significance Single submitter
- AGPAT3 p.Arg52Cys Uncertain significance Single submitter
- AGPAT3 p.Arg52His Uncertain significance Single submitter
- AGPAT3 p.Asn235Ser Uncertain significance Single submitter
- AGPAT3 p.Asp153Asn Uncertain significance Single submitter
- AGPAT3 p.Glu157Lys Uncertain significance Single submitter
- AGPAT3 p.Glu167Lys Uncertain significance Single submitter
- AGPAT3 p.Glu250Lys Uncertain significance Single submitter
- AGPAT3 p.Gly113Arg Uncertain significance Single submitter
- AGPAT3 p.Gly18Ser Uncertain significance Single submitter
- AGPAT3 p.Gly220Val Uncertain significance Single submitter
- AGPAT3 p.His275Tyr Uncertain significance Single submitter
- AGPAT3 p.Leu260Val Uncertain significance Single submitter
- AGPAT3 p.Leu45Val Uncertain significance Single submitter
- AGPAT3 p.Lys236Gln Uncertain significance Single submitter
- AGPAT3 p.Met293Thr Uncertain significance Single submitter
- AGPAT3 p.Pro305Ala Uncertain significance Single submitter
- AGPAT3 p.Ser117Arg Uncertain significance Single submitter
- AGPAT3 p.Val12Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- AGPAT3 p.Arg152Gln Uncertain significance Single submitter
- AGPAT3 p.Arg161Cys Uncertain significance Single submitter
- AGPAT3 p.Glu269Lys Uncertain significance Single submitter
- AGPAT3 p.Leu16Pro Uncertain significance Single submitter
- AGPAT3 p.Thr135Met Uncertain significance Single submitter
- AGPAT3 p.Val187Phe Uncertain significance Single submitter
All AGPAT3 variants
Pathogenic 1
- p.Tyr249Ter No assertion criteria intellectual disability
Benign 1
- p.Phe11= Single submitter
Likely benign 5
- c.348+7G>A Single submitter
- p.Leu121= Single submitter
- p.Pro166= Single submitter
- p.Thr178= Single submitter
- p.Tyr367= Single submitter
Uncertain significance 31
- c.178+1G>A Single submitter
- p.Ala223Thr Single submitter ⚠
- p.Ala283Val Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg161His Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg52His Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Glu157Lys Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu269Lys Single submitter ⚠
- p.Gly113Arg Single submitter ⚠
- p.Gly18Ser Single submitter ⚠
- p.Gly220Val Single submitter ⚠
- p.His275Tyr Single submitter ⚠
- p.Leu16Pro Single submitter ⚠
- p.Leu260Val Single submitter ⚠
- p.Leu45Val Single submitter ⚠
- p.Lys236Gln Single submitter ⚠
- p.Met293Thr Single submitter ⚠
- p.Pro305Ala Single submitter ⚠
- p.Ser117Arg Single submitter ⚠
- p.Thr135Met Single submitter ⚠
- p.Trp67Ter Single submitter
- p.Val12Met Single submitter ⚠
- p.Val187Phe Single submitter ⚠