DNAJB8 p.Glu6=
c.18A>G · rs13326637 · VCV789713
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.81%, 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 -2.6 | GERP -3.8 |
| Overall | ||
| CADD | 2.095 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.81%
African / African-American · 3,608/75,000 alleles
Filtering AF
4.68%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.63%
Overall
0.263%
4,245/1,612,514 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 4.81% | 21 |
| Admixed American | 0.527% | 190 |
| Remaining individualsnot grpmax-eligible | 0.384% | 260 |
| Middle Eastern | 0.165% | 606 |
| South Asian | 0.0165% | 6,061 |
| European (non-Finnish) | 0.00475% | 21,052 |
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
- DNAJB8
- Protein
- p.Glu6=
- Coding
- c.18A>G
- MANE Select
- NM_153330
- dbSNP
- rs13326637
- Type
- single nucleotide variant
- Location
- chr3:128463228 (GRCh38)
- Gene constraint
- LOEUF 1.786 · pLI 0.38 (gnomAD)
- Structure
- AlphaFold pLDDT 66.35 · 2 PDB
- Residue 6
- the j domain; an α-helix
Similar variants
- DNAJB8 p.Glu6Lys Uncertain significance ★ ⚠ same residue
- DNAJB8 p.Met153Leu Benign ★★ same type
- DNAJB8 p.Ala143Asp Uncertain significance ★ ⚠ same type
- DNAJB8 p.Ala143Gly Uncertain significance ★ ⚠ same type
- DNAJB8 p.Ala147Val Uncertain significance ★ ⚠ same type
- DNAJB8 p.Ala68Thr Uncertain significance ★ ⚠ same type
- DNAJB8 p.Arg131Ser Uncertain significance ★ ⚠ same type
- DNAJB8 p.Arg206His 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/dnajb8-p-glu6 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown