BCL2A1 — 22 ClinVar variants
All ClinVar germline BCL2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
2 Benign · 20 Uncertain significance
Full BCL2A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCL2A1 p.Asn58Ser Uncertain significance Single submitter
- BCL2A1 p.Asn72Asp Uncertain significance Single submitter
- BCL2A1 p.Cys165Arg Uncertain significance Single submitter
- BCL2A1 p.Gly97Ala Uncertain significance Single submitter
- BCL2A1 p.Leu99Val Uncertain significance Single submitter
- BCL2A1 p.Lys50Asn Uncertain significance Single submitter
- BCL2A1 p.Met127Ile Uncertain significance Single submitter
- BCL2A1 p.Pro110Leu Uncertain significance Single submitter
- BCL2A1 p.Pro110Ser Uncertain significance Single submitter
- BCL2A1 p.Ser119Ala Uncertain significance Single submitter
- BCL2A1 p.Thr33Met Uncertain significance Single submitter
- BCL2A1 p.Tyr115Cys Uncertain significance Single submitter
- BCL2A1 p.Tyr8Asn Uncertain significance Single submitter
- BCL2A1 p.Val44Ala Uncertain significance Single submitter
- BCL2A1 p.Val44Ile Uncertain significance Single submitter
- BCL2A1 p.Val48Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All BCL2A1 variants
Benign 2
- p.Thr33= Multiple submitters
- c.421-8T>G Single submitter
Uncertain significance 20
- p.Asn58Ser Single submitter ⚠
- p.Asn72Asp Single submitter ⚠
- p.Cys165Arg Single submitter ⚠
- p.Gly97Ala Single submitter ⚠
- p.Leu170Pro Single submitter ⚠
- p.Leu99Val Single submitter ⚠
- p.Lys101Asn Single submitter ⚠
- p.Lys50Asn Single submitter ⚠
- p.Met127Ile Single submitter ⚠
- p.Phe144Leu Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro110Ser Single submitter ⚠
- p.Pro24Thr Single submitter ⚠
- p.Ser119Ala Single submitter ⚠
- p.Thr33Met Single submitter ⚠
- p.Tyr115Cys Single submitter ⚠
- p.Tyr8Asn Single submitter ⚠
- p.Val44Ala Single submitter ⚠
- p.Val44Ile Single submitter ⚠
- p.Val48Met Single submitter ⚠