DNAJB4 p.Asp309Ter
c.924dup · VCV3346854
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
DNAJB4-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DNAJB4
- Protein
- p.Asp309Ter
- Coding
- c.924dup
- MANE Select
- NM_007034
- Type
- Duplication
- Location
- chr1:78016156 (GRCh38)
- Gene constraint
- LOEUF 0.617 · pLI 0.68 (gnomAD)
- Structure
- AlphaFold pLDDT 83.43
- Residue 309
- a UniProt-annotated variant site (in cmyo21; severely decreased protein abundance in homozygous patient cells; increased degradation)
Disease context
DNAJB4-related disorder
Similar variants
- DNAJB4 p.Pro33Leu Uncertain significance ⚠ same condition
- DNAJB4 p.Arg25Ter Likely benign same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dnajb4-p-asp309ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown