AGPAT5 — 72 ClinVar variants
All ClinVar germline AGPAT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Pathogenic · 1 Benign · 3 Likely benign · 67 Uncertain significance
Full AGPAT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGPAT5 p.Ala102Ser Uncertain significance Single submitter
- AGPAT5 p.Ala193Ser Uncertain significance Single submitter
- AGPAT5 p.Ala31Ser Uncertain significance Single submitter
- AGPAT5 p.Ala31Thr Uncertain significance Single submitter
- AGPAT5 p.Ala91Pro Uncertain significance Single submitter
- AGPAT5 p.Arg116His Uncertain significance Single submitter
- AGPAT5 p.Arg143Cys Uncertain significance Single submitter
- AGPAT5 p.Arg143Gly Uncertain significance Single submitter
- AGPAT5 p.Arg143His Uncertain significance Single submitter
- AGPAT5 p.Arg242Thr Uncertain significance Single submitter
- AGPAT5 p.Asn148Lys Uncertain significance Single submitter
- AGPAT5 p.Asp300His Uncertain significance Single submitter
- AGPAT5 p.Asp339Asn Uncertain significance Single submitter
- AGPAT5 p.Asp79Glu Uncertain significance Single submitter
- AGPAT5 p.Gln135Glu Uncertain significance Single submitter
- AGPAT5 p.Gln48His Uncertain significance Single submitter
- AGPAT5 p.Glu67Lys Uncertain significance Single submitter
- AGPAT5 p.His8Tyr Uncertain significance Single submitter
- AGPAT5 p.Ile107Val Uncertain significance Single submitter
- AGPAT5 p.Ile258Thr Uncertain significance Single submitter
- AGPAT5 p.Ile262Val Uncertain significance Single submitter
- AGPAT5 p.Ile318Val Uncertain significance Single submitter
- AGPAT5 p.Ile362Val Uncertain significance Single submitter
- AGPAT5 p.Lys183Asn Uncertain significance Single submitter
- AGPAT5 p.Lys183Glu Uncertain significance Single submitter
- AGPAT5 p.Lys319Arg Uncertain significance Single submitter
- AGPAT5 p.Lys320Glu Uncertain significance Single submitter
- AGPAT5 p.Lys82Thr Uncertain significance Single submitter
- AGPAT5 p.Pro245Leu Uncertain significance Single submitter
- AGPAT5 p.Pro81Arg Uncertain significance Single submitter
- AGPAT5 p.Ser314Tyr Uncertain significance Single submitter
- AGPAT5 p.Ser329Thr Uncertain significance Single submitter
- AGPAT5 p.Thr164Ser Uncertain significance Single submitter
- AGPAT5 p.Thr9Ala Uncertain significance Single submitter
- AGPAT5 p.Thr9Ser Uncertain significance Single submitter
- AGPAT5 p.Tyr117Ser Uncertain significance Single submitter
- AGPAT5 p.Tyr140Cys Uncertain significance Single submitter
- AGPAT5 p.Tyr28Asn Uncertain significance Single submitter
- AGPAT5 p.Val19Leu Uncertain significance Single submitter
- AGPAT5 p.Val213Ile Uncertain significance Single submitter
- AGPAT5 p.Val29Glu Uncertain significance Single submitter
- AGPAT5 p.Val29Leu Uncertain significance Single submitter
- AGPAT5 p.Val34Phe Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- AGPAT5 p.Arg13Gly Uncertain significance Single submitter
- AGPAT5 p.Arg153Gln Uncertain significance Single submitter
- AGPAT5 p.Arg195Cys Uncertain significance Single submitter
- AGPAT5 p.Arg264Cys Uncertain significance Single submitter
- AGPAT5 p.Arg284Cys Uncertain significance Single submitter
- AGPAT5 p.Arg306Ile Uncertain significance Single submitter
- AGPAT5 p.Arg342Lys Uncertain significance Single submitter
- AGPAT5 p.Arg53Gly Uncertain significance Single submitter
- AGPAT5 p.Asp103Gly Uncertain significance Single submitter
- AGPAT5 p.Gln194Leu Uncertain significance Single submitter
- AGPAT5 p.Glu275Val Uncertain significance Single submitter
- AGPAT5 p.Glu286Lys Uncertain significance Single submitter
- AGPAT5 p.His114Gln Uncertain significance Single submitter
- AGPAT5 p.His261Tyr Uncertain significance Single submitter
- AGPAT5 p.Leu112Val Uncertain significance Single submitter
- AGPAT5 p.Leu123Ile Uncertain significance Single submitter
- AGPAT5 p.Leu21Val Uncertain significance Single submitter
- AGPAT5 p.Leu2Pro Uncertain significance Single submitter
- AGPAT5 p.Met61Ile Uncertain significance Single submitter
- AGPAT5 p.Pro245Ala Uncertain significance Single submitter
- AGPAT5 p.Ser4Phe Uncertain significance Single submitter
- AGPAT5 p.Thr182Ile Uncertain significance Single submitter
- AGPAT5 p.Trp35Arg Uncertain significance Single submitter
- AGPAT5 p.Tyr167His Uncertain significance Single submitter
-
AGPAT5 p.Gly309Glu
Benign
No assertion criteria
keloid formation
All AGPAT5 variants
Pathogenic 1
- p.Ile287fs No assertion criteria hypercholesterolemia, familial, 1
Benign 1
- p.Gly309Glu No assertion criteria keloid formation ⚠
Likely benign 3
- p.His212= Multiple submitters
- c.495+9C>A Single submitter
- p.Thr248Ala Single submitter
Uncertain significance 67
- p.Ala102Ser Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala31Ser Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala91Pro Single submitter ⚠
- p.Arg116His Single submitter ⚠
- p.Arg13Gly Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg143His Single submitter ⚠
- p.Arg153Gln Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg242Thr Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg284Cys Single submitter ⚠
- p.Arg306Ile Single submitter ⚠
- p.Arg342Lys Single submitter ⚠
- p.Arg53Gly Single submitter ⚠
- p.Asn148Lys Single submitter ⚠
- p.Asp103Gly Single submitter ⚠
- p.Asp300His Single submitter ⚠
- p.Asp339Asn Single submitter ⚠
- p.Asp79Glu Single submitter ⚠
- p.Gln135Glu Single submitter ⚠
- p.Gln194Leu Single submitter ⚠
- p.Gln48His Single submitter ⚠
- p.Glu275Val Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.His114Gln Single submitter ⚠
- p.His261Tyr Single submitter ⚠
- p.His8Tyr Single submitter ⚠
- p.Ile107Val Single submitter ⚠
- p.Ile258Thr Single submitter ⚠
- p.Ile262Val Single submitter ⚠
- p.Ile318Val Single submitter ⚠
- p.Ile362Val Single submitter ⚠
- p.Leu112Val Single submitter ⚠
- p.Leu123Ile Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Leu2Pro Single submitter ⚠
- p.Lys183Asn Single submitter ⚠
- p.Lys183Glu Single submitter ⚠
- p.Lys319Arg Single submitter ⚠
- p.Lys320Glu Single submitter ⚠
- p.Lys82Thr Single submitter ⚠
- p.Met61Ile Single submitter ⚠
- p.Pro245Ala Single submitter ⚠
- p.Pro245Leu Single submitter ⚠
- p.Pro81Arg Single submitter ⚠
- p.Ser314Tyr Single submitter ⚠
- p.Ser329Thr Single submitter ⚠
- p.Ser4Phe Single submitter ⚠
- p.Thr164Ser Single submitter ⚠
- p.Thr182Ile Single submitter ⚠
- p.Thr9Ala Single submitter ⚠
- p.Thr9Ser Single submitter ⚠
- p.Trp35Arg Single submitter ⚠
- p.Tyr117Ser Single submitter ⚠
- p.Tyr140Cys Single submitter ⚠
- p.Tyr167His Single submitter ⚠
- p.Tyr28Asn Single submitter ⚠
- p.Val19Leu Single submitter ⚠
- p.Val213Ile Single submitter ⚠
- p.Val29Glu Single submitter ⚠
- p.Val29Leu Single submitter ⚠
- p.Val34Phe Single submitter ⚠