BOP1 — 29 ClinVar variants
All ClinVar germline BOP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Likely benign · 26 Uncertain significance
Full BOP1 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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BOP1 p.Arg577His Uncertain significance Single submitter
- BOP1 p.Gln524Glu Uncertain significance Single submitter
- BOP1 p.Gly47Ser Uncertain significance Single submitter
- BOP1 p.Pro41Ser Uncertain significance Single submitter
- BOP1 p.Ser494Asn Uncertain significance Single submitter
- BOP1 p.Val602Ile Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- BOP1 p.Ala7Val Uncertain significance Single submitter
- BOP1 p.Arg20Trp Uncertain significance Single submitter
- BOP1 p.Arg21Gln Uncertain significance Single submitter
- BOP1 p.Arg568Cys Uncertain significance Single submitter
- BOP1 p.Arg576Cys Uncertain significance Single submitter
- BOP1 p.Arg576His Uncertain significance Single submitter
- BOP1 p.Arg591Gln Uncertain significance Single submitter
- BOP1 p.Asp54Asn Uncertain significance Single submitter
- BOP1 p.Asp73Val Uncertain significance Single submitter
- BOP1 p.Asp78Asn Likely benign Single submitter
- BOP1 p.Asp87His Uncertain significance Single submitter
- BOP1 p.Gln572Glu Uncertain significance Single submitter
- BOP1 p.Glu25Asp Uncertain significance Single submitter
- BOP1 p.Glu520Lys Uncertain significance Single submitter
- BOP1 p.Glu79Gln Uncertain significance Single submitter
- BOP1 p.Glu80Gln Uncertain significance Single submitter
- BOP1 p.Pro34His Uncertain significance Single submitter
- BOP1 p.Pro34Leu Uncertain significance Single submitter
- BOP1 p.Ser50Phe Uncertain significance Single submitter
- BOP1 p.Thr98Ile Uncertain significance Single submitter
- BOP1 p.Val503Ile Likely benign Single submitter
- BOP1 p.Val59Met Uncertain significance Single submitter
All BOP1 variants
Likely benign 3
- p.Asp78Asn Single submitter ⚠
- p.Gly93Arg Single submitter
- p.Val503Ile Single submitter ⚠
Uncertain significance 26
- p.Ala7Val Single submitter ⚠
- p.Arg20Trp Single submitter ⚠
- p.Arg21Gln Single submitter ⚠
- p.Arg568Cys Single submitter ⚠
- p.Arg576Cys Single submitter ⚠
- p.Arg576His Single submitter ⚠
- p.Arg577His Single submitter ⚠
- p.Arg591Gln Single submitter ⚠
- p.Asp54Asn Single submitter ⚠
- p.Asp73Val Single submitter ⚠
- p.Asp87His Single submitter ⚠
- p.Gln524Glu Single submitter ⚠
- p.Gln572Glu Single submitter ⚠
- p.Glu25Asp Single submitter ⚠
- p.Glu520Lys Single submitter ⚠
- p.Glu79Gln Single submitter ⚠
- p.Glu80Gln Single submitter ⚠
- p.Gly47Ser Single submitter ⚠
- p.Pro34His Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro41Ser Single submitter ⚠
- p.Ser494Asn Single submitter ⚠
- p.Ser50Phe Single submitter ⚠
- p.Thr98Ile Single submitter ⚠
- p.Val59Met Single submitter ⚠
- p.Val602Ile Single submitter ⚠