DNAJB5 p.Lys48Arg
c.143A>G · VCV4243073
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000523%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.1 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 0.95, phastCons 1 |
| Regional constraint | o/e 0.99 | unconstrained · MANE · 2,658 bp · p 0.88 · regional, not allelic |
| Overall | ||
| CADD | 23.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000523%
European (non-Finnish) · 6/1,146,958 alleles
Filtering AF
0.000188%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000124%
Overall
0.000429%
6/1,399,380 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
- DNAJB5
- Protein
- p.Lys48Arg
- Coding
- c.143A>G
- MANE Select
- NM_001349723
- Type
- single nucleotide variant
- Location
- chr9:34990773 (GRCh38)
- Gene constraint
- LOEUF 0.605 · pLI 0.65 (gnomAD)
- Structure
- AlphaFold pLDDT 80.69
- Residue 48
- the j domain
Similar variants
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- DNAJB5 p.Thr406Pro Uncertain significance ★★ ⚠ same type
- DNAJB5 c.40G>A Uncertain significance ★ same type
- DNAJB5 c.50T>C Uncertain significance ★ same type
- DNAJB5 c.55G>C Uncertain significance ★ same type
- DNAJB5 c.58C>T Uncertain significance ★ same type
- DNAJB5 c.-133+6G>A Uncertain significance ★ 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/dnajb5-p-lys48arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown