DNAJB11 p.His231=
c.693C>T · VCV4693329
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00176%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.413 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -20 | GERP -4.5 |
| Overall | ||
| CADD | 0.07 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00176%
Admixed American · 1/56,914 alleles
Filtering AF
0.000363%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000263%
Overall
0.000628%
10/1,591,414 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00176% | 56,914 |
| European (non-Finnish) | 0.000771% | 129,730 |
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.His231=
- Coding
- c.693C>T
- MANE Select
- NM_016306
- Type
- single nucleotide variant
- Location
- chr3:186582726 (GRCh38)
- Gene constraint
- LOEUF 0.933 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.34
- Residue 231
- a UniProt-annotated variant site (in pkd6)
Similar variants
- DNAJB11 p.His231Gln Uncertain significance ★ ⚠ same residue
- 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
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-his231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown