ACE2 — 22 ClinVar variants
All ClinVar germline ACE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
1 Benign · 5 Likely benign · 16 Uncertain significance
Full ACE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACE2 p.Asn682Ser Uncertain significance Single submitter
- ACE2 p.Asp597Asn Uncertain significance Single submitter
- ACE2 p.Asp637Asn Uncertain significance Single submitter
- ACE2 p.Met323Thr Uncertain significance Single submitter
- ACE2 p.Ser646Phe Uncertain significance Single submitter
- ACE2 p.Tyr381Cys Uncertain significance Single submitter
- ACE2 p.Tyr515His Uncertain significance Single submitter
- ACE2 p.Val343Ile Uncertain significance Single submitter
- ACE2 p.Val506Leu Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- ACE2 p.Arg161Lys Uncertain significance Single submitter
- ACE2 p.Asn277Asp Uncertain significance Single submitter
- ACE2 p.Asn712Tyr Uncertain significance Single submitter
- ACE2 p.Glu790Gly Uncertain significance Single submitter
- ACE2 p.Thr52Ser Uncertain significance Single submitter
- ACE2 p.Thr763Asn Uncertain significance Single submitter
- ACE2 p.Arg219Cys Uncertain significance No assertion criteria
All ACE2 variants
Benign 1
- p.Asn690= Multiple submitters
Likely benign 5
- c.584-7C>A Multiple submitters
- p.Lys26Arg Multiple submitters
- p.Asp367= Single submitter
- p.Glu231= Single submitter
- p.Ala614Ser No assertion criteria
Uncertain significance 16
- p.Arg161Lys Single submitter ⚠
- p.Asn277Asp Single submitter ⚠
- p.Asn682Ser Single submitter ⚠
- p.Asn712Tyr Single submitter ⚠
- p.Asp597Asn Single submitter ⚠
- p.Asp637Asn Single submitter ⚠
- p.Glu790Gly Single submitter ⚠
- p.Met323Thr Single submitter ⚠
- p.Ser646Phe Single submitter ⚠
- p.Thr52Ser Single submitter ⚠
- p.Thr763Asn Single submitter ⚠
- p.Tyr381Cys Single submitter ⚠
- p.Tyr515His Single submitter ⚠
- p.Val343Ile Single submitter ⚠
- p.Val506Leu Single submitter ⚠
- p.Arg219Cys No assertion criteria ⚠