SCAF8
Chr 6SR-related CTD associated factor 8
Also known as: RBM16
The SCAF8 protein prevents premature termination of RNA polymerase II transcription by binding to nascent RNA and suppressing early polyadenylation sites, thereby ensuring production of full-length functional proteins. Mutations cause autosomal dominant neurodevelopmental disorder with microcephaly, epilepsy, and brain malformations. This gene is highly constrained against loss-of-function variants, reflecting its critical role in normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
202 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 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 141 | 2 | 1 | 145 |
Likely Benign | 1 | 5 | 0 | 0 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 2 | 146 | 28 | 1 | 177 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SCAF8 · 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