BORCS7 — 17 ClinVar variants
All ClinVar germline BORCS7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
1 Likely benign · 16 Uncertain significance
Full BORCS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BORCS7 p.Gln10Arg Uncertain significance Single submitter
- BORCS7 p.Gln88Glu Uncertain significance Single submitter
- BORCS7 p.Gln98Glu Uncertain significance Single submitter
- BORCS7 p.Lys37Arg Uncertain significance Single submitter
- BORCS7 p.Ser69Asn Uncertain significance Single submitter
- BORCS7 p.Ser95Leu Uncertain significance Single submitter
- BORCS7 p.Thr30Ser Uncertain significance Single submitter
- BORCS7 p.Thr4Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BORCS7 p.Arg44Gln Uncertain significance Single submitter
- BORCS7 p.Arg44Trp Uncertain significance Single submitter
- BORCS7 p.Gln84Arg Uncertain significance Single submitter
- BORCS7 p.Glu8Gln Uncertain significance Single submitter
- BORCS7 p.Gly5Arg Uncertain significance Single submitter
- BORCS7 p.His65Tyr Uncertain significance Single submitter
- BORCS7 p.Thr27Ile Uncertain significance Single submitter
- BORCS7 p.Thr6Met Uncertain significance Single submitter
All BORCS7 variants
Likely benign 1
- p.Thr26Asn Single submitter
Uncertain significance 16
- p.Arg44Gln Single submitter ⚠
- p.Arg44Trp Single submitter ⚠
- p.Gln10Arg Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Gln88Glu Single submitter ⚠
- p.Gln98Glu Single submitter ⚠
- p.Glu8Gln Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.His65Tyr Single submitter ⚠
- p.Lys37Arg Single submitter ⚠
- p.Ser69Asn Single submitter ⚠
- p.Ser95Leu Single submitter ⚠
- p.Thr27Ile Single submitter ⚠
- p.Thr30Ser Single submitter ⚠
- p.Thr4Ile Single submitter ⚠
- p.Thr6Met Single submitter ⚠