DOCK5 p.Ser1306=
c.3918A>G · rs149401497 · VCV776298
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.74%, 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 -10 | GERP -4.5 |
| Overall | ||
| CADD | 0.092 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.74%
African / African-American · 1,304/75,030 alleles
Filtering AF
1.66%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.63%
Overall
0.0899%
1,450/1,613,726 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.74% | 58 |
| Remaining individualsnot grpmax-eligible | 0.122% | 822 |
| Admixed American | 0.0934% | 1,071 |
| Middle Eastern | 0.0165% | 6,058 |
| South Asian | 0.00439% | 22,769 |
| European (non-Finnish) | 0.000763% | 131,081 |
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
- DOCK5
- Protein
- p.Ser1306=
- Coding
- c.3918A>G
- MANE Select
- NM_024940
- dbSNP
- rs149401497
- Type
- single nucleotide variant
- Location
- chr8:25377406 (GRCh38)
- Gene constraint
- LOEUF 0.679 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.63 · 11 PDB
- Residue 1306
- the docker domain
Similar variants
- DOCK5 c.4788+9C>T Benign ★★ same type
- DOCK5 p.Leu986Phe Benign/Likely benign ★★ same type
- DOCK5 p.Met987Leu Benign ★★ same type
- DOCK5 p.Pro1467= Benign ★★ same type
- DOCK5 p.Thr469Met Benign/Likely benign ★★ ⚠ same type
- DOCK5 p.Ala1067Val Uncertain significance ★ ⚠ same type
- DOCK5 p.Ala1194Ser Uncertain significance ★ ⚠ same type
- DOCK5 p.Ala1268Thr 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/dock5-p-ser1306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown