BORCS8 — 32 ClinVar variants
All ClinVar germline BORCS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 1 Likely benign · 27 Uncertain significance
Full BORCS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
- BORCS8 p.Ala25Gly Uncertain significance Single submitter
- BORCS8 p.Arg85His Uncertain significance Single submitter
- BORCS8 p.Gly107Val Uncertain significance Single submitter
- BORCS8 p.His100Arg Uncertain significance Single submitter
- BORCS8 p.His108Arg Uncertain significance Single submitter
- BORCS8 p.Pro4Leu Uncertain significance Single submitter
- BORCS8 p.Thr14Met Uncertain significance Single submitter
- BORCS8 p.Trp56Leu Uncertain significance Single submitter
- BORCS8 p.Val21Ile Uncertain significance Single submitter
- BORCS8 p.Val23Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- BORCS8 p.Arg40His Uncertain significance Single submitter
- BORCS8 p.Arg55Cys Uncertain significance Single submitter
- BORCS8 p.Arg55Leu Uncertain significance Single submitter
- BORCS8 p.Arg85Leu Uncertain significance Single submitter
- BORCS8 p.Arg98Trp Uncertain significance Single submitter
- BORCS8 p.Glu111Lys Uncertain significance Single submitter
- BORCS8 p.Glu27Lys Uncertain significance Single submitter
- BORCS8 p.Gly62Arg Uncertain significance Single submitter
- BORCS8 p.Met53Val Uncertain significance Single submitter
- BORCS8 p.Pro115Leu Uncertain significance Single submitter
- BORCS8 p.Ser20Asn Uncertain significance Single submitter
-
BORCS8 p.Ser29Pro
Uncertain significance
Single submitter
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
- BORCS8 p.Thr66Ile Uncertain significance Single submitter
- BORCS8 p.Val30Met Uncertain significance Single submitter
- BORCS8 p.Val74Met Uncertain significance Single submitter
- BORCS8 p.Val82Ile Uncertain significance Single submitter
- BORCS8 p.Val87Met Uncertain significance Single submitter
-
BORCS8 p.Thr66Pro
Pathogenic
No assertion criteria
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
All BORCS8 variants
Pathogenic 3
- p.Asn26fs No assertion criteria neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
- p.Ser42Pro No assertion criteria neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
- p.Thr66Pro No assertion criteria neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities ⚠
Likely pathogenic 1
- p.Glu68Ter Single submitter neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Likely benign 1
- p.Ser118= Single submitter
Uncertain significance 27
- p.Ala25Gly Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg55Leu Single submitter ⚠
- p.Arg85His Single submitter ⚠
- p.Arg85Leu Single submitter ⚠
- p.Arg98Trp Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Gly107Val Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.His100Arg Single submitter ⚠
- p.His108Arg Single submitter ⚠
- p.Met53Val Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Ser20Asn Single submitter ⚠
- p.Ser29Pro Single submitter neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities ⚠
- p.Thr14Met Single submitter ⚠
- p.Thr66Ile Single submitter ⚠
- p.Trp56Leu Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val23Ile Single submitter ⚠
- p.Val30Met Single submitter ⚠
- p.Val74Met Single submitter ⚠
- p.Val82Ile Single submitter ⚠
- p.Val87Met Single submitter ⚠