ACTR2 — 16 ClinVar variants
All ClinVar germline ACTR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely pathogenic · 15 Uncertain significance
Full ACTR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTR2 p.Arg103Lys Uncertain significance Single submitter
- ACTR2 p.Ile291Val Uncertain significance Single submitter
- ACTR2 p.Leu197Phe Uncertain significance Single submitter
- ACTR2 p.Lys341Asn Uncertain significance Single submitter
- ACTR2 p.Met67Val Uncertain significance Single submitter
- ACTR2 p.Thr164Ile Uncertain significance Single submitter
- ACTR2 p.Val329Gly Uncertain significance Single submitter
- ACTR2 p.Val70Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ACTR2 p.Gly135Ser Uncertain significance Single submitter
- ACTR2 p.Ile227Thr Uncertain significance Single submitter
- ACTR2 p.Ile342Met Uncertain significance Single submitter
- ACTR2 p.Met74Val Uncertain significance Single submitter
- ACTR2 p.Pro95Ser Uncertain significance Single submitter
- ACTR2 p.Thr212Met Uncertain significance Single submitter
All ACTR2 variants
Likely pathogenic 1
- p.Ile251fs Single submitter intellectual disability
Uncertain significance 15
- c.159+2094A>G Single submitter
- p.Arg103Lys Single submitter ⚠
- p.Gly135Ser Single submitter ⚠
- p.Ile227Thr Single submitter ⚠
- p.Ile291Val Single submitter ⚠
- p.Ile342Met Single submitter ⚠
- p.Leu197Phe Single submitter ⚠
- p.Lys341Asn Single submitter ⚠
- p.Met67Val Single submitter ⚠
- p.Met74Val Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Thr164Ile Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Val329Gly Single submitter ⚠
- p.Val70Ile Single submitter ⚠