RASSF8
Chr 12Ras association domain family member 8
Also known as: C12orf2, HOJ1
This gene encodes a tumor suppressor protein that maintains adherens junction function in epithelial cells and regulates epithelial cell migration. Chromosomal translocations involving RASSF8 cause complex synpolydactyly, a limb malformation disorder characterized by fusion of digits. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
102 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 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 58 | 0 | 0 | 58 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 62 | 36 | 0 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RASSF8 · 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