Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 9 submitters
gnomAD v4.1
Common
common (popmax 50.8%, eas) — too common for a highly-penetrant pathogenic allele
Conditions
2
fetal akinesia deformation sequence 1
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 -4.8 | GERP -1.9 |
| Overall | ||
| CADD | 0.381 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
50.8%
East Asian · 21,778/42,896 alleles
Filtering AF
50.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 50%
Overall
21.4%
338,528/1,579,746 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 50.8% | 2 |
| Finnishnot grpmax-eligible | 38.2% | 3 |
| Amishnot grpmax-eligible | 27.8% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 22% | 5 |
| Remaining individualsnot grpmax-eligible | 21.5% | 5 |
| South Asian | 21% | 5 |
| European (non-Finnish) | 21% | 5 |
| Middle Eastern | 15% | 7 |
| Admixed American | 14.6% | 7 |
| African / African-American | 5.23% | 19 |
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
- DOK7
- Protein
- p.Ser371=
- Coding
- c.1113A>C
- MANE Select
- NM_173660
- dbSNP
- rs6811856
- Type
- single nucleotide variant
- Location
- chr4:3493099 (GRCh38)
- Gene constraint
- LOEUF 1.658 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 65.61
Similar variants
- DOK7 c.331+1G>T Pathogenic ★★ same condition
- DOK7 c.332-1G>A Likely pathogenic ★★ same condition
- DOK7 c.332-1G>C Likely pathogenic ★★ same condition
- DOK7 c.332-1G>T Likely pathogenic ★★ same condition
- DOK7 p.Arg158Gln Pathogenic/Likely pathogenic ★★ same condition
- DOK7 p.Arg201Ter Pathogenic ★★ same condition
- DOK7 p.Cys412Ter Pathogenic ★★ same condition
- DOK7 p.Gln151Ter Pathogenic/Likely pathogenic ★★ same condition
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/dok7-p-ser371 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown