OSBPL10
Chr 3oxysterol binding protein like 10
Also known as: ORP10, OSBP9
The protein functions as a lipid transporter that exchanges phosphatidylserine and phosphatidylinositol 4-phosphate between the endoplasmic reticulum and plasma membrane, and negatively regulates lipid biosynthesis. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.696).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
235 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 180 | 3 | 0 | 183 |
Likely Benign | 0 | 13 | 0 | 1 | 14 |
Benign | 0 | 1 | 0 | 2 | 3 |
| Total | 0 | 194 | 19 | 3 | 216 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OSBPL10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools