DNAJB13 p.Ile265=
c.795C>T · VCV4753745
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0424%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| REVEL | 0.019 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | Δ0.20 | donor loss · deltas |
| Constraint at this position | ||
| Conservation | phyloP 0.53 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 8.836 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0424%
African / African-American · 26/61,306 alleles
Filtering AF
0.0297%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0254%
Overall
0.00344%
30/872,410 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0424% | 2,358 |
| Remaining individualsnot grpmax-eligible | 0.00525% | 19,048 |
| South Asian | 0.00261% | 38,256 |
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
- DNAJB13
- Protein
- p.Ile265=
- Coding
- c.795C>T
- MANE Select
- NM_153614
- Type
- single nucleotide variant
- Location
- chr11:73969320 (GRCh38)
- Gene constraint
- LOEUF 0.9 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.81 · 1 PDB
Similar variants
- DNAJB13 p.Gln136Ter Pathogenic/Likely pathogenic ★★ same type
- DNAJB13 p.Arg131Gln Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Arg142Gln Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Arg222Cys Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Arg301Cys Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Asn14Asp Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Asp169Gly Uncertain significance ★★ ⚠ same type
- DNAJB13 p.Asp65Asn 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/dnajb13-p-ile265 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown