SP140L
Chr 2SP140 nuclear body protein like
SP140L encodes a predicted nuclear transcription factor that binds DNA and regulates RNA polymerase II-mediated transcription. The gene is highly constrained against loss-of-function variants (pLI near 0), but no definitive human disease associations have been established for SP140L mutations. Further research is needed to determine if variants in this gene cause pediatric neurological disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
162 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 | 29 | 0 | 29 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 83 | 3 | 0 | 86 |
Likely Benign | 0 | 9 | 1 | 1 | 11 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 0 | 92 | 36 | 1 | 129 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SP140L · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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