BAK1 — 24 ClinVar variants
All ClinVar germline BAK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Benign · 1 Likely benign · 22 Uncertain significance
Full BAK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BAK1 p.Arg127Pro Uncertain significance Single submitter
- BAK1 p.Arg206Gln Uncertain significance Single submitter
- BAK1 p.Arg36His Uncertain significance Single submitter
- BAK1 p.Asn124Ser Uncertain significance Single submitter
- BAK1 p.Asp160Asn Uncertain significance Single submitter
- BAK1 p.Asp57Gly Uncertain significance Single submitter
- BAK1 p.Leu200Phe Uncertain significance Single submitter
- BAK1 p.Thr148Asn Uncertain significance Single submitter
- BAK1 p.Thr148Ile Uncertain significance Single submitter
- BAK1 p.Trp170Cys Uncertain significance Single submitter
- BAK1 p.Val142Ile Uncertain significance Single submitter
- BAK1 p.Val193Ala Uncertain significance Single submitter
- BAK1 p.Val39Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- BAK1 p.Ala28Val Benign Single submitter
- BAK1 p.Arg169Trp Uncertain significance Single submitter
- BAK1 p.Arg207Thr Uncertain significance Single submitter
- BAK1 p.Arg76Trp Uncertain significance Single submitter
- BAK1 p.Asn124Ile Uncertain significance Single submitter
- BAK1 p.Glu105Gln Uncertain significance Single submitter
- BAK1 p.Gly135Ser Uncertain significance Single submitter
- BAK1 p.Phe203Ser Uncertain significance Single submitter
- BAK1 p.Thr31Ala Uncertain significance Single submitter
- BAK1 p.Val74Met Uncertain significance Single submitter
All BAK1 variants
Benign 1
- p.Ala28Val Single submitter ⚠
Likely benign 1
- p.His145Arg Single submitter
Uncertain significance 22
- p.Arg127Pro Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg206Gln Single submitter ⚠
- p.Arg207Thr Single submitter ⚠
- p.Arg36His Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Asn124Ile Single submitter ⚠
- p.Asn124Ser Single submitter ⚠
- p.Asp160Asn Single submitter ⚠
- p.Asp57Gly Single submitter ⚠
- p.Glu105Gln Single submitter ⚠
- p.Gly135Ser Single submitter ⚠
- p.Leu200Phe Single submitter ⚠
- p.Phe203Ser Single submitter ⚠
- p.Thr148Asn Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Thr31Ala Single submitter ⚠
- p.Trp170Cys Single submitter ⚠
- p.Val142Ile Single submitter ⚠
- p.Val193Ala Single submitter ⚠
- p.Val39Ile Single submitter ⚠
- p.Val74Met Single submitter ⚠