BCL7A — 23 ClinVar variants
All ClinVar germline BCL7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
2 Likely benign · 21 Uncertain significance
Full BCL7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCL7A p.Ala116Thr Uncertain significance Single submitter
- BCL7A p.Ala180Thr Uncertain significance Single submitter
- BCL7A p.Ala184Pro Uncertain significance Single submitter
- BCL7A p.Arg170Gln Uncertain significance Single submitter
- BCL7A p.Asn163Ser Uncertain significance Single submitter
- BCL7A p.Glu208Lys Uncertain significance Single submitter
- BCL7A p.Gly127Ser Uncertain significance Single submitter
- BCL7A p.Ile99Val Uncertain significance Single submitter
- BCL7A p.Lys131Arg Uncertain significance Single submitter
- BCL7A p.Lys140Arg Uncertain significance Single submitter
- BCL7A p.Ser176Leu Uncertain significance Single submitter
- BCL7A p.Thr182Lys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All BCL7A variants
Likely benign 2
- p.Ser125= Single submitter
- p.Ser173Cys No assertion criteria BCL7A-related disorder ⚠
Uncertain significance 21
- c.561+14G>A Single submitter
- c.561+36C>G Single submitter
- c.561+41G>A Single submitter
- c.561+4C>T Single submitter
- c.561+50T>C Single submitter
- c.561+7C>G Single submitter
- c.561+7C>T Single submitter
- p.Ala116Thr Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala184Pro Single submitter ⚠
- p.Arg170Gln Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Glu208Lys Single submitter ⚠
- p.Gly127Ser Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Lys140Arg Single submitter ⚠
- p.Ser113Phe Single submitter ⚠
- p.Ser176Leu Single submitter ⚠
- p.Thr182Lys Single submitter ⚠
- p.Thr37Asn Single submitter ⚠