BCAS4 — 45 ClinVar variants
All ClinVar germline BCAS4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Benign · 1 Benign/Likely benign · 8 Likely benign · 34 Uncertain significance
Full BCAS4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCAS4 p.Ala118Ser Uncertain significance Single submitter
- BCAS4 p.Ala126Thr Uncertain significance Single submitter
- BCAS4 p.Ala29Ser Uncertain significance Single submitter
- BCAS4 p.Ala31Val Uncertain significance Single submitter
- BCAS4 p.Ala6Val Uncertain significance Single submitter
- BCAS4 p.Ala89Gly Uncertain significance Single submitter
- BCAS4 p.Arg120Gln Uncertain significance Single submitter
- BCAS4 p.Arg3Gly Uncertain significance Single submitter
- BCAS4 p.Gln107Arg Uncertain significance Single submitter
- BCAS4 p.Gln117Arg Uncertain significance Single submitter
- BCAS4 p.Glu144Gln Uncertain significance Single submitter
- BCAS4 p.Glu88Val Uncertain significance Single submitter
- BCAS4 p.Gly12Arg Uncertain significance Single submitter
- BCAS4 p.Gly15Arg Uncertain significance Single submitter
- BCAS4 p.His15Pro Uncertain significance Single submitter
- BCAS4 p.His96Arg Uncertain significance Single submitter
- BCAS4 p.Lys134Gln Uncertain significance Single submitter
- BCAS4 p.Pro138= Uncertain significance Single submitter
- BCAS4 p.Pro140= Uncertain significance Single submitter
- BCAS4 p.Pro146= Uncertain significance Single submitter
- BCAS4 p.Pro25Arg Uncertain significance Single submitter
- BCAS4 p.Val141Met Uncertain significance Single submitter
- BCAS4 p.Val98Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- BCAS4 p.Ser130Tyr Benign/Likely benign Multiple submitters
- BCAS4 c.-15C>T Uncertain significance Single submitter
- BCAS4 c.-20C>A Uncertain significance Single submitter
- BCAS4 c.-6C>T Uncertain significance Single submitter
- BCAS4 p.Arg110Trp Uncertain significance Single submitter
- BCAS4 p.Arg56Lys Uncertain significance Single submitter
- BCAS4 p.Arg86Trp Uncertain significance Single submitter
- BCAS4 p.Glu39Lys Uncertain significance Single submitter
- BCAS4 p.Leu101Val Uncertain significance Single submitter
- BCAS4 p.Leu3Pro Uncertain significance Single submitter
- BCAS4 p.Lys71Asn Uncertain significance Single submitter
- BCAS4 p.Met77Thr Uncertain significance Single submitter
- BCAS4 p.Ser135= Likely benign Single submitter
All BCAS4 variants
Benign 2
- p.Ser130Thr Multiple submitters
- c.163-3C>T Single submitter
Benign/Likely benign 1
- p.Ser130Tyr Multiple submitters ⚠
Likely benign 8
- p.Thr142Met Multiple submitters
- c.400-418C>A Single submitter
- p.Asp5Asn Single submitter
- p.Pro138Leu Single submitter
- p.Pro25= Single submitter
- p.Pro9= Single submitter
- p.Ser135= Single submitter ⚠
- p.Thr4Ala Single submitter
Uncertain significance 34
- c.-15C>T Single submitter ⚠
- c.-20C>A Single submitter ⚠
- c.-6C>T Single submitter ⚠
- p.Ala118Ser Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala29Ser Single submitter ⚠
- p.Ala31Val Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala89Gly Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg3Gly Single submitter ⚠
- p.Arg56Lys Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.Gln107Arg Single submitter ⚠
- p.Gln117Arg Single submitter ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu88Val Single submitter ⚠
- p.Gly12Arg Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.His15Pro Single submitter ⚠
- p.His96Arg Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu3Pro Single submitter ⚠
- p.Lys134Gln Single submitter ⚠
- p.Lys71Asn Single submitter ⚠
- p.Met77Thr Single submitter ⚠
- p.Pro138= Single submitter ⚠
- p.Pro140= Single submitter ⚠
- p.Pro146= Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Val141Met Single submitter ⚠
- p.Val98Ile Single submitter ⚠