BORCS5 — 29 ClinVar variants
All ClinVar germline BORCS5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Likely pathogenic · 1 Conflicting · 1 Likely benign · 26 Uncertain significance
Full BORCS5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BORCS5 p.Ala154Thr Uncertain significance Single submitter
- BORCS5 p.Ala79Asp Uncertain significance Single submitter
- BORCS5 p.Arg158His Uncertain significance Single submitter
- BORCS5 p.Arg182Gln Uncertain significance Single submitter
- BORCS5 p.Arg192His Uncertain significance Single submitter
- BORCS5 p.Arg45Gln Uncertain significance Single submitter
- BORCS5 p.Asn14Ser Uncertain significance Single submitter
- BORCS5 p.Asp191Gly Uncertain significance Single submitter
- BORCS5 p.Gln57Pro Uncertain significance Single submitter
- BORCS5 p.Pro178His Uncertain significance Single submitter
- BORCS5 p.Pro190Thr Uncertain significance Single submitter
- BORCS5 p.Pro22Thr Uncertain significance Single submitter
- BORCS5 p.Val107Ile Uncertain significance Single submitter
- BORCS5 p.Val47Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- BORCS5 p.Arg157His Uncertain significance Single submitter
- BORCS5 p.Arg182Trp Uncertain significance Single submitter
- BORCS5 p.Arg192Cys Uncertain significance Single submitter
- BORCS5 p.Asp52Asn Uncertain significance Single submitter
- BORCS5 p.Cys93Ser Uncertain significance Single submitter
- BORCS5 p.Gly180Val Uncertain significance Single submitter
- BORCS5 p.Ile118Met Uncertain significance Single submitter
- BORCS5 p.Ile54Thr Uncertain significance Single submitter
- BORCS5 p.Lys116Thr Uncertain significance Single submitter
- BORCS5 p.Lys26Glu Uncertain significance Single submitter
- BORCS5 p.Met176Val Uncertain significance Single submitter
- BORCS5 p.Pro168Ser Uncertain significance Single submitter
All BORCS5 variants
Likely pathogenic 1
- p.Lys141fs Single submitter BORCS5-related disorder
Conflicting classifications of pathogenicity 1
- c.203-1G>T No assertion criteria corpus callosum, agenesis of
Likely benign 1
- p.Arg195Lys Single submitter
Uncertain significance 26
- p.Ala154Thr Single submitter ⚠
- p.Ala79Asp Single submitter ⚠
- p.Arg157His Single submitter ⚠
- p.Arg158His Single submitter ⚠
- p.Arg182Gln Single submitter ⚠
- p.Arg182Trp Single submitter ⚠
- p.Arg192Cys Single submitter ⚠
- p.Arg192His Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Asn14Ser Single submitter ⚠
- p.Asp191Gly Single submitter ⚠
- p.Asp52Asn Single submitter ⚠
- p.Cys93Ser Single submitter ⚠
- p.Gln57Pro Single submitter ⚠
- p.Gly180Val Single submitter ⚠
- p.Ile118Met Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Lys116Thr Single submitter ⚠
- p.Lys26Glu Single submitter ⚠
- p.Met176Val Single submitter ⚠
- p.Pro168Ser Single submitter ⚠
- p.Pro178His Single submitter ⚠
- p.Pro190Thr Single submitter ⚠
- p.Pro22Thr Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val47Ile Single submitter ⚠