DNAJC19 c.*188G>A
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 31.3%, afr) — too common for a highly-penetrant pathogenic allele
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 -2.8 | GERP -2.7 |
| Non-coding constraint | Z 2.60 | 1 kb window · o/e 0.81 · regional · uncalibrated |
| Overall | ||
| CADD | 2.966 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
31.3%
African / African-American · 17,213/55,010 alleles
Filtering AF
30.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 30.7%
Overall
21.9%
134,504/615,418 alleles · common
exomes 97,937/463,374 · genomes 36,567/152,044 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 31.3% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 30.4% | 3 |
| Amishnot grpmax-eligible | 28.2% | 4 |
| Middle Eastern | 25.6% | 4 |
| Remaining individualsnot grpmax-eligible | 23.9% | 4 |
| South Asian | 22.6% | 4 |
| European (non-Finnish) | 21.8% | 5 |
| Admixed American | 17.5% | 6 |
| Finnishnot grpmax-eligible | 15.9% | 6 |
| East Asian | 11.1% | 9 |
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
- DNAJC19
- Coding
- c.*188G>A
- MANE Select
- NM_145261
- dbSNP
- rs1051411
- Type
- single nucleotide variant
- Location
- chr3:180984452 (GRCh38)
- Gene constraint
- LOEUF 1.547 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.50
Similar variants
- DNAJC19 c.130-1G>C Pathogenic ★★ same type
- 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
- DNAJC19 p.Arg84Gln Uncertain significance ★★ ⚠ same type
- DNAJC19 p.Gly68Asp 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-c-star-188g-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown