SASS6
Chr 1ARSAS-6 centriolar assembly protein
Also known as: MCPH14, SAS-6, SAS6
The protein forms the central hub and spokes of the cartwheel-shaped centriole structure and is essential for centriole duplication and function within the centrosome. Mutations cause autosomal recessive primary microcephaly 14 through a loss-of-function mechanism that disrupts normal centriole formation and cell division.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
69 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 | 2 | 1 | 6 | 0 | 9 |
Likely Pathogenic | 1 | 0 | 1 | 0 | 2 |
VUS | 0 | 3 | 1 | 0 | 4 |
Likely Benign | 0 | 4 | 4 | 5 | 13 |
Benign | 0 | 4 | 31 | 5 | 40 |
Conflicting | — | 1 | |||
| Total | 3 | 12 | 43 | 10 | 69 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SASS6 · 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