DNAJC19 p.Ser43=
c.129T>C · rs2473933488 · VCV3031560
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
DNAJC19-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP 0.75, phastCons 1 |
| Overall | ||
| CADD | 14.95 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DNAJC19
- Protein
- p.Ser43=
- Coding
- c.129T>C
- MANE Select
- NM_145261
- dbSNP
- rs2473933488
- Type
- single nucleotide variant
- Location
- chr3:180988023 (GRCh38)
- Gene constraint
- LOEUF 1.547 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.50
Disease context
DNAJC19-related disorder
Similar variants
- DNAJC19 c.130-1G>C Pathogenic ★★ same condition
- DNAJC19 c.281-4A>T Likely benign same condition
- DNAJC19 p.Ala101fs Likely pathogenic ★ same condition
- DNAJC19 c.4-1G>A Likely pathogenic ★★ same type
- DNAJC19 c.55+1G>A Pathogenic/Likely pathogenic ★★ same type
- DNAJC19 p.Ala25Thr Uncertain significance ★★ ⚠ same type
- DNAJC19 p.Ala73Thr Uncertain significance ★★ same type
- DNAJC19 p.Arg20Cys 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/dnajc19-p-ser43 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown