CYP3A5 — 51 ClinVar variants
All ClinVar germline CYP3A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
3 Benign · 14 Likely benign · 34 Uncertain significance
Full CYP3A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP3A5 p.Ala343Glu Uncertain significance Single submitter
- CYP3A5 p.Asn192Ser Uncertain significance Single submitter
- CYP3A5 p.Asp336Tyr Uncertain significance Single submitter
- CYP3A5 p.Gly140Arg Uncertain significance Single submitter
- CYP3A5 p.Ile371Thr Uncertain significance Single submitter
- CYP3A5 p.Ile383Ser Uncertain significance Single submitter
- CYP3A5 p.Leu120Ser Uncertain significance Single submitter
- CYP3A5 p.Leu221Ile Uncertain significance Single submitter
- CYP3A5 p.Leu314His Uncertain significance Single submitter
- CYP3A5 p.Met444Thr Uncertain significance Single submitter
- CYP3A5 p.Met449Thr Uncertain significance Single submitter
- CYP3A5 p.Phe228Leu Uncertain significance Single submitter
- CYP3A5 p.Pro227Thr Uncertain significance Single submitter
- CYP3A5 p.Pro344Gln Uncertain significance Single submitter
- CYP3A5 p.Ser252Thr Uncertain significance Single submitter
- CYP3A5 p.Ser299Ala Uncertain significance Single submitter
- CYP3A5 p.Thr309Asn Uncertain significance Single submitter
- CYP3A5 p.Thr478Met Uncertain significance Single submitter
- CYP3A5 p.Tyr152His Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CYP3A5 p.Ala164Val Uncertain significance Single submitter
- CYP3A5 p.Ala8Val Uncertain significance Single submitter
- CYP3A5 p.Arg260His Uncertain significance Single submitter
- CYP3A5 p.Arg415Cys Uncertain significance Single submitter
- CYP3A5 p.Asn198Lys Uncertain significance Single submitter
- CYP3A5 p.His30Tyr Likely benign Single submitter
- CYP3A5 p.Phe233Val Uncertain significance Single submitter
- CYP3A5 p.Pro169Ser Uncertain significance Single submitter
- CYP3A5 p.Pro199Leu Uncertain significance Single submitter
- CYP3A5 p.Pro466His Uncertain significance Single submitter
- CYP3A5 p.Ser392Pro Uncertain significance Single submitter
- CYP3A5 p.Tyr347Cys Uncertain significance Single submitter
- CYP3A5 p.Tyr53His Uncertain significance Single submitter
- CYP3A5 p.Val381Ala Uncertain significance Single submitter
- CYP3A5 p.Val93Leu Uncertain significance Single submitter
-
CYP3A5 p.Ser100Tyr
Likely benign
No assertion criteria
CYP3A5-related disorder
All CYP3A5 variants
Benign 3
- c.1414-3T>C Multiple submitters
- c.219-237= Multiple submitters
- c.72-111C>T No assertion criteria CYP3A5-related disorder
Likely benign 14
- p.Arg255Ser Single submitter
- p.His30Tyr Single submitter ⚠
- p.His402= Single submitter
- p.Leu32fs Single submitter
- p.Leu46Phe Single submitter
- c.72-152T>C No assertion criteria CYP3A5-related disorder
- c.799-127G>A No assertion criteria CYP3A5-related disorder
- c.-74C>T No assertion criteria CYP3A5-related disorder
- c.-86G>A No assertion criteria CYP3A5-related disorder
- p.Lys208= No assertion criteria CYP3A5-related disorder
- p.Pro231fs No assertion criteria CYP3A5-related disorder
- p.Pro397= No assertion criteria CYP3A5-related disorder
- p.Ser100Tyr No assertion criteria CYP3A5-related disorder ⚠
- p.Thr346fs No assertion criteria CYP3A5-related disorder
Uncertain significance 34
- c.219-235A>G Single submitter CYP3A5-related disorder
- p.Ala164Val Single submitter ⚠
- p.Ala343Glu Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg260His Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Asn192Ser Single submitter ⚠
- p.Asn198Lys Single submitter ⚠
- p.Asp336Tyr Single submitter ⚠
- p.Gly140Arg Single submitter ⚠
- p.Ile371Thr Single submitter ⚠
- p.Ile383Ser Single submitter ⚠
- p.Leu120Ser Single submitter ⚠
- p.Leu221Ile Single submitter ⚠
- p.Leu314His Single submitter ⚠
- p.Met444Thr Single submitter ⚠
- p.Met449Thr Single submitter ⚠
- p.Phe228Leu Single submitter ⚠
- p.Phe233Val Single submitter ⚠
- p.Pro169Ser Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro227Thr Single submitter ⚠
- p.Pro344Gln Single submitter ⚠
- p.Pro466His Single submitter ⚠
- p.Ser252Thr Single submitter ⚠
- p.Ser299Ala Single submitter ⚠
- p.Ser392Pro Single submitter ⚠
- p.Thr309Asn Single submitter ⚠
- p.Thr478Met Single submitter ⚠
- p.Tyr152His Single submitter ⚠
- p.Tyr347Cys Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Val381Ala Single submitter ⚠
- p.Val93Leu Single submitter ⚠