AKR1C1 — 55 ClinVar variants
All ClinVar germline AKR1C1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
2 Benign · 4 Likely benign · 49 Uncertain significance
Full AKR1C1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AKR1C1 p.Ala243Ser Uncertain significance Single submitter
- AKR1C1 p.Ala25Val Uncertain significance Single submitter
- AKR1C1 p.Arg223Gln Uncertain significance Single submitter
- AKR1C1 p.Arg250Gln Uncertain significance Single submitter
- AKR1C1 p.Cys206Arg Uncertain significance Single submitter
- AKR1C1 p.Cys206Gly Uncertain significance Single submitter
- AKR1C1 p.Glu322Asp Uncertain significance Single submitter
- AKR1C1 p.His117Pro Uncertain significance Single submitter
- AKR1C1 p.Leu254Val Uncertain significance Single submitter
- AKR1C1 p.Leu54Phe Uncertain significance Single submitter
- AKR1C1 p.Leu94Phe Uncertain significance Single submitter
- AKR1C1 p.Ser3Leu Uncertain significance Single submitter
- AKR1C1 p.Val142Ala Uncertain significance Single submitter
- AKR1C1 p.Val18Ile Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- AKR1C1 p.Ala37Gly Uncertain significance Single submitter
- AKR1C1 p.Ala37Thr Uncertain significance Single submitter
- AKR1C1 p.Ala44Gly Uncertain significance Single submitter
- AKR1C1 p.Arg101Ser Uncertain significance Single submitter
- AKR1C1 p.Arg170Cys Uncertain significance Single submitter
- AKR1C1 p.Arg276Leu Uncertain significance Single submitter
- AKR1C1 p.Arg47Cys Uncertain significance Single submitter
- AKR1C1 p.Arg91Pro Uncertain significance Single submitter
- AKR1C1 p.Asn11Ser Uncertain significance Single submitter
- AKR1C1 p.Asn169Ser Uncertain significance Single submitter
- AKR1C1 p.Asn198Ser Uncertain significance Single submitter
- AKR1C1 p.Asn273Ser Uncertain significance Single submitter
- AKR1C1 p.Asp143Glu Uncertain significance Single submitter
- AKR1C1 p.Gln275His Uncertain significance Single submitter
- AKR1C1 p.Glu43Lys Uncertain significance Single submitter
- AKR1C1 p.Glu43Val Uncertain significance Single submitter
- AKR1C1 p.Glu77Val Uncertain significance Single submitter
- AKR1C1 p.His48Tyr Uncertain significance Single submitter
- AKR1C1 p.Ile255Thr Uncertain significance Single submitter
- AKR1C1 p.Ile49Thr Uncertain significance Single submitter
- AKR1C1 p.Ile65Met Uncertain significance Single submitter
- AKR1C1 p.Ile79Leu Uncertain significance Single submitter
- AKR1C1 p.Leu244Ser Uncertain significance Single submitter
- AKR1C1 p.Lys201Thr Uncertain significance Single submitter
- AKR1C1 p.Pro230Arg Uncertain significance Single submitter
- AKR1C1 p.Pro233Ser Uncertain significance Single submitter
- AKR1C1 p.Pro26Ser Uncertain significance Single submitter
- AKR1C1 p.Pro315Leu Uncertain significance Single submitter
- AKR1C1 p.Pro315Thr Uncertain significance Single submitter
- AKR1C1 p.Pro92Arg Uncertain significance Single submitter
- AKR1C1 p.Thr141Ile Uncertain significance Single submitter
- AKR1C1 p.Trp227Arg Uncertain significance Single submitter
- AKR1C1 p.Tyr196His Uncertain significance Single submitter
- AKR1C1 p.Val120Met Uncertain significance Single submitter
- AKR1C1 p.Val240Phe Uncertain significance Single submitter
All AKR1C1 variants
Benign 2
- p.Asn280Lys Multiple submitters
- p.Leu108= Multiple submitters
Likely benign 4
- p.Thr147= Multiple submitters
- p.Arg250= Single submitter
- p.Glu93= Single submitter
- p.Leu40Trp Single submitter
Uncertain significance 49
- p.Ala243Ser Single submitter ⚠
- p.Ala25Val Single submitter ⚠
- p.Ala37Gly Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala44Gly Single submitter ⚠
- p.Arg101Ser Single submitter ⚠
- p.Arg170Cys Single submitter ⚠
- p.Arg223Gln Single submitter ⚠
- p.Arg250Gln Single submitter ⚠
- p.Arg276Leu Single submitter ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg91Pro Single submitter ⚠
- p.Asn11Ser Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asn273Ser Single submitter ⚠
- p.Asp143Glu Single submitter ⚠
- p.Cys206Arg Single submitter ⚠
- p.Cys206Gly Single submitter ⚠
- p.Gln275His Single submitter ⚠
- p.Glu322Asp Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu43Val Single submitter ⚠
- p.Glu77Val Single submitter ⚠
- p.His117Pro Single submitter ⚠
- p.His48Tyr Single submitter ⚠
- p.Ile255Thr Single submitter ⚠
- p.Ile49Thr Single submitter ⚠
- p.Ile65Met Single submitter ⚠
- p.Ile79Leu Single submitter ⚠
- p.Leu244Ser Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Leu54Phe Single submitter ⚠
- p.Leu94Phe Single submitter ⚠
- p.Lys201Thr Single submitter ⚠
- p.Pro230Arg Single submitter ⚠
- p.Pro233Ser Single submitter ⚠
- p.Pro26Ser Single submitter ⚠
- p.Pro315Leu Single submitter ⚠
- p.Pro315Thr Single submitter ⚠
- p.Pro92Arg Single submitter ⚠
- p.Ser3Leu Single submitter ⚠
- p.Thr141Ile Single submitter ⚠
- p.Trp227Arg Single submitter ⚠
- p.Tyr196His Single submitter ⚠
- p.Val120Met Single submitter ⚠
- p.Val142Ala Single submitter ⚠
- p.Val18Ile Single submitter ⚠
- p.Val240Phe Single submitter ⚠