DNAJB11 p.Asp194=
c.582C>T · rs138789127 · VCV3047011
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0134%, afr)
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 -3.9 | GERP -4.5 |
| Overall | ||
| CADD | 5.656 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0134%
African / African-American · 10/74,628 alleles
Filtering AF
0.00726%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00552%
Overall
0.00322%
52/1,612,844 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0134% | 7,463 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,804 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00677% | 14,781 |
| Admixed American | 0.00669% | 14,943 |
| East Asian | 0.00223% | 44,888 |
| European (non-Finnish) | 0.0022% | 45,371 |
| South Asian | 0.0011% | 90,986 |
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
- DNAJB11
- Protein
- p.Asp194=
- Coding
- c.582C>T
- MANE Select
- NM_016306
- dbSNP
- rs138789127
- Type
- single nucleotide variant
- Location
- chr3:186581496 (GRCh38)
- Gene constraint
- LOEUF 0.933 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.34
Similar variants
- DNAJB11 p.Arg206Ter Pathogenic ★★ same type
- DNAJB11 p.Arg242Ter Pathogenic ★★ same type
- DNAJB11 p.Arg24Ter Pathogenic ★★ same type
- DNAJB11 p.Arg34Ter Pathogenic ★★ same type
- DNAJB11 p.Glu144Ter Pathogenic/Likely pathogenic ★★ same type
- DNAJB11 p.Leu77Pro Likely pathogenic ★★ same type
- DNAJB11 p.Pro54Arg Likely pathogenic ★★ same type
- DNAJB11 p.Ala297Val 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/dnajb11-p-asp194 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown