BCLAF3 — 9 ClinVar variants
All ClinVar germline BCLAF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
9 Uncertain significance
Full BCLAF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCLAF3 p.Arg230Lys Uncertain significance Single submitter
- BCLAF3 p.Arg679His Uncertain significance Single submitter
- BCLAF3 p.Arg696Thr Uncertain significance Single submitter
- BCLAF3 p.Gln337His Uncertain significance Single submitter
- BCLAF3 p.Thr260Ile Uncertain significance Single submitter
- BCLAF3 p.Tyr672Cys Uncertain significance Single submitter
- BCLAF3 p.Val417Met Uncertain significance Single submitter
All BCLAF3 variants
Uncertain significance 9
- c.1450+1G>A Single submitter
- p.Arg230Lys Single submitter ⚠
- p.Arg679His Single submitter ⚠
- p.Arg696Thr Single submitter ⚠
- p.Gln337His Single submitter ⚠
- p.Lys12fs Single submitter
- p.Thr260Ile Single submitter ⚠
- p.Tyr672Cys Single submitter ⚠
- p.Val417Met Single submitter ⚠