DNAJB13 c.68+91C>T
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 7.98%, 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 | ||
| Splice region | donor +91 | deep intronic (+91 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.066 | GERP -2.6 |
| Non-coding constraint | Z 1.27 | 1 kb window · o/e 0.91 · regional · uncalibrated |
| Overall | ||
| CADD | 1.314 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.98%
African / African-American · 5,752/72,120 alleles
Filtering AF
7.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 7.73%
Overall
0.458%
6,761/1,477,608 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 7.98% | 13 |
| Middle Eastern | 0.835% | 120 |
| Admixed American | 0.649% | 154 |
| Remaining individualsnot grpmax-eligible | 0.634% | 158 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0322% | 3,107 |
| South Asian | 0.0316% | 3,167 |
| European (non-Finnish) | 0.0187% | 5,342 |
| East Asian | 0.00692% | 14,451 |
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
- Coding
- c.68+91C>T
- MANE Select
- NM_153614
- dbSNP
- rs77871681
- Type
- single nucleotide variant
- Location
- chr11:73951228 (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-c-68-plus-91c-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown