DOCK6 c.3550+22G>A
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 25%, amr) — 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 +22 | near-intronic (+22 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.7 | GERP 0.2 |
| Non-coding constraint | Z 0.59 | 1 kb window · o/e 0.96 · regional · uncalibrated |
| Overall | ||
| CADD | 5.488 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
25%
Admixed American · 15,025/60,010 alleles
Filtering AF
24.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 24.6%
Overall
12%
193,972/1,613,384 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 25% | 4 |
| East Asian | 24.4% | 4 |
| African / African-American | 19.9% | 5 |
| South Asian | 14.6% | 7 |
| Finnishnot grpmax-eligible | 12.8% | 8 |
| Amishnot grpmax-eligible | 12.5% | 8 |
| Remaining individualsnot grpmax-eligible | 11.8% | 9 |
| European (non-Finnish) | 10.4% | 10 |
| Middle Eastern | 9.01% | 11 |
| Ashkenazi Jewishnot grpmax-eligible | 4.22% | 24 |
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
- DOCK6
- Coding
- c.3550+22G>A
- MANE Select
- NM_020812
- dbSNP
- rs3826815
- Type
- single nucleotide variant
- Location
- chr19:11221829 (GRCh38)
- Gene constraint
- LOEUF 0.87 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.78 · 7 PDB
Similar variants
- DOCK6 c.4491+1G>A Pathogenic ★★ same type
- DOCK6 c.5939+2T>C Pathogenic ★★ same type
- DOCK6 c.807-1G>A Likely pathogenic ★★ same type
- DOCK6 p.Arg1526Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Arg184Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Arg488Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Gln1188Ter Pathogenic/Likely pathogenic ★★ same type
- DOCK6 p.Glu1494Ter 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/dock6-c-3550-plus-22g-a (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown