DNAJC5 p.Arg36=
c.108G>C · rs774703054 · VCV1488110
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00134%, afr)
Conditions
1
neuronal ceroid lipofuscinosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.21 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.4 | GERP 0.94, phastCons 1 |
| Overall | ||
| CADD | 18.44 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00134%
African / African-American · 1/74,898 alleles
Overall
0.000657%
1/152,198 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DNAJC5
- Protein
- p.Arg36=
- Coding
- c.108G>C
- MANE Select
- NM_025219
- dbSNP
- rs774703054
- Type
- single nucleotide variant
- Location
- chr20:63929312 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 74.09 · 2 PDB
- Residue 36
- the j domain; an α-helix
Similar variants
- DNAJC5 p.Arg36Gln Uncertain significance ★★ ⚠ same residue
- DNAJC5 p.Arg36Pro Uncertain significance ★★ ⚠ same residue
- DNAJC5 p.Arg36Trp Uncertain significance ★ ⚠ same residue
- DNAJC5 p.Ala176Val Uncertain significance ★★ ⚠ same condition
- DNAJC5 p.Ala26Thr Uncertain significance ★★ ⚠ same condition
- DNAJC5 p.Ala54Thr Uncertain significance ★★ ⚠ same condition
- DNAJC5 p.Ala54Val Uncertain significance ★★ ⚠ same condition
- DNAJC5 p.Ala63Thr Uncertain significance ★★ ⚠ 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/dnajc5-p-arg36 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown