ASCC3
Chr 6ARactivating signal cointegrator 1 complex subunit 3
Also known as: ASC1p200, HELIC1, MRT81, RNAH
This gene encodes an ATPase and 3'-5' DNA helicase that functions in DNA repair of alkylated DNA and in the ribosome quality control pathway that rescues stalled ribosomes during problematic translation. Mutations cause spastic tetraplegia 20, an autosomal recessive disorder characterized by early-onset spastic quadriplegia and intellectual disability. The gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
425 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 | 4 | 5 | 18 | 0 | 27 |
Likely Pathogenic | 4 | 0 | 0 | 0 | 4 |
VUS | 12 | 262 | 16 | 1 | 291 |
Likely Benign | 0 | 9 | 1 | 18 | 28 |
Benign | 0 | 3 | 2 | 4 | 9 |
Conflicting | — | 3 | |||
| Total | 20 | 279 | 37 | 23 | 362 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ASCC3 · 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