BAHCC1 — 15 ClinVar variants
All ClinVar germline BAHCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Benign · 12 Likely benign · 2 Uncertain significance
Full BAHCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 3
The independent predictors disagree with each other — read with care.
All BAHCC1 variants
Benign 1
- c.4180-6del Single submitter
Likely benign 12
- p.Ala1035Thr Single submitter
- p.Ala1813= Single submitter
- p.Arg770Leu Single submitter ⚠
- p.Gly2305= Single submitter
- p.Gly2399= Single submitter
- p.His1875= Single submitter
- p.Leu1120Pro Single submitter
- p.Leu219= Single submitter
- p.Pro1884= Single submitter
- p.Pro532= Single submitter
- p.Thr1790= Single submitter
- p.Val137Met Single submitter ⚠
Uncertain significance 2
- p.Ala27Ser Single submitter ⚠
- p.Arg16His Single submitter ⚠