AFG2B
Chr 15ARAAA ATPase AFG2B
Also known as: DFNB119, NEDHLS, SPATA5L1
This protein functions as an ATP-dependent chaperone essential for ribosomal large subunit biogenesis and maintains replication fork progression and genome stability as part of a chromatin-associated ATPase complex. Mutations cause autosomal recessive nonsyndromic deafness and a neurodevelopmental disorder with hearing loss and spasticity. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
199 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 | 6 | 0 | 11 | 0 | 17 |
Likely Pathogenic | 3 | 13 | 0 | 0 | 16 |
VUS | 0 | 118 | 13 | 0 | 131 |
Likely Benign | 0 | 5 | 0 | 9 | 14 |
Benign | 0 | 4 | 1 | 3 | 8 |
Conflicting | — | 3 | |||
| Total | 9 | 140 | 25 | 12 | 189 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AFG2B · 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 →No open access results found
External Resources
Links to major genomics databases and tools