BCAS2 — 19 ClinVar variants
All ClinVar germline BCAS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Benign · 18 Uncertain significance
Full BCAS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCAS2 p.Arg222Gln Uncertain significance Single submitter
- BCAS2 p.Asn123Thr Uncertain significance Single submitter
- BCAS2 p.Asn220Asp Uncertain significance Single submitter
- BCAS2 p.Asp20Gly Uncertain significance Single submitter
- BCAS2 p.His159Arg Uncertain significance Single submitter
- BCAS2 p.His159Gln Uncertain significance Single submitter
- BCAS2 p.Ile121Thr Uncertain significance Single submitter
- BCAS2 p.Lys218Glu Uncertain significance Single submitter
- BCAS2 p.Met111Val Uncertain significance Single submitter
- BCAS2 p.Met127Val Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BCAS2 p.Ala2Val Uncertain significance Single submitter
- BCAS2 p.Ala75Val Uncertain significance Single submitter
- BCAS2 p.Arg76Gln Uncertain significance Single submitter
- BCAS2 p.Asn133Ser Uncertain significance Single submitter
- BCAS2 p.Asn48Ser Uncertain significance Single submitter
- BCAS2 p.Cys132Tyr Uncertain significance Single submitter
- BCAS2 p.Leu142Val Uncertain significance Single submitter
- BCAS2 p.Met145Val Uncertain significance Single submitter
All BCAS2 variants
Benign 1
- p.Thr4Ala Single submitter
Uncertain significance 18
- p.Ala2Val Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Asn123Thr Single submitter ⚠
- p.Asn133Ser Single submitter ⚠
- p.Asn220Asp Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Cys132Tyr Single submitter ⚠
- p.His159Arg Single submitter ⚠
- p.His159Gln Single submitter ⚠
- p.Ile121Thr Single submitter ⚠
- p.Leu142Val Single submitter ⚠
- p.Lys218Glu Single submitter ⚠
- p.Met111Val Single submitter ⚠
- p.Met127Val Single submitter ⚠
- p.Met145Val Single submitter ⚠