BMS1
Chr 10ADBMS1 ribosome biogenesis factor
Also known as: ACC, BMS1L
BMS1 encodes a GTPase required for 40S ribosomal subunit synthesis and pre-ribosomal RNA processing, controlling ribosome biogenesis by delivering the RCL1 endonuclease to pre-ribosomes in a GTP-dependent manner. Mutations cause autosomal dominant aplasia cutis congenita, a condition characterized by localized absence of skin typically present at birth. The gene is highly constrained against loss-of-function variants (LOEUF 0.448), indicating that such mutations are likely deleterious.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
283 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 | 1 | 10 | 0 | 11 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 173 | 4 | 0 | 178 |
Likely Benign | 0 | 12 | 8 | 18 | 38 |
Benign | 0 | 11 | 1 | 9 | 21 |
Conflicting | — | 3 | |||
| Total | 1 | 197 | 24 | 27 | 252 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BMS1 · 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