DNAJC17 p.Pro302fs
c.903del · VCV4715863
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (11 of 11) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.7 | GERP 1.7, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DNAJC17
- Protein
- p.Pro302fs
- Coding
- c.903del
- MANE Select
- NM_018163
- Type
- Deletion
- Location
- chr15:40767952 (GRCh38)
- Gene constraint
- LOEUF 0.95 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.72 · 1 PDB
Similar variants
- DNAJC17 p.Pro302Ala Uncertain significance ★★ ⚠ same residue
- DNAJC17 p.Pro302Ser Uncertain significance ★★ ⚠ same residue
- DNAJC17 c.793-27_793-11del Uncertain significance ★ same type
- DNAJC17 p.Arg93fs Uncertain significance ★ same type
- DNAJC17 p.Glu61del Uncertain significance ★ same type
- DNAJC17 p.Tyr273del Uncertain significance ★ same type
- DNAJC17 c.149-9del Likely benign ★ same type
- DNAJC17 c.382-18_382-17del Likely benign ★ same type
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/dnajc17-p-pro302fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown