ACP1 — 20 ClinVar variants
All ClinVar germline ACP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
6 Benign · 3 Likely benign · 11 Uncertain significance
Full ACP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 5
The independent predictors disagree with each other — read with care.
All ACP1 variants
Benign 6
- c.43+10C>T Multiple submitters
- c.43+8G>A Multiple submitters
- p.Gly134= Multiple submitters
- p.Lys7Asn Multiple submitters ⚠
- p.Thr141= Multiple submitters
- p.Gln106Arg Single submitter ⚠
Likely benign 3
- c.231+68T>G Single submitter
- c.231+77C>T Single submitter
- p.Thr32= Single submitter
Uncertain significance 11
- c.231+100G>T Single submitter
- c.231+49T>C Single submitter
- c.231+57G>A Single submitter
- c.231+73G>A Single submitter
- p.Asn39Ile Single submitter ⚠
- p.Cys91Phe Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Lys80Glu Single submitter ⚠
- p.Pro131Ser Single submitter ⚠
- p.Ser8Phe Single submitter ⚠
- p.Tyr143Cys Single submitter ⚠