DNAJC12 p.Phe193=
c.579C>T · rs1589599486 · VCV764777
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 4.7 | GERP -0.66, phastCons 1 |
| Overall | ||
| CADD | 10.08 | 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
- DNAJC12
- Protein
- p.Phe193=
- Coding
- c.579C>T
- MANE Select
- NM_021800
- dbSNP
- rs1589599486
- Type
- single nucleotide variant
- Location
- chr10:67797134 (GRCh38)
- Gene constraint
- LOEUF 1.193 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 68.84 · 1 PDB
- Residue 193
- a UniProt-annotated variant site (in hpanbh4; likely pathogenic); a UniProt-annotated variant site (in hpanbh4; likely pathogenic; decreased mrna and protein levels in homozygous patient cells; probably affects pah stability; pah levels and activity are severely reduced in homozygous patient cells)
Similar variants
- DNAJC12 p.Arg72Ter Pathogenic/Likely pathogenic ★★ same type
- DNAJC12 p.Gln162Ter Pathogenic/Likely pathogenic ★★ same type
- DNAJC12 p.Trp175Ter Pathogenic ★★ same type
- DNAJC12 p.Ala144Ser Uncertain significance ★★ ⚠ same type
- DNAJC12 p.Ala73Gly Uncertain significance ★★ ⚠ same type
- DNAJC12 p.Ala73Val Uncertain significance ★★ ⚠ same type
- DNAJC12 p.Arg180Cys Uncertain significance ★★ ⚠ same type
- DNAJC12 p.Arg180His 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/dnajc12-p-phe193 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown