DNAH17 p.Pro1818=
c.5454G>A · rs117111854 · VCV2648367
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.934%, eas)
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 -20 | GERP -4.1 |
| Overall | ||
| CADD | 0.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.934%
East Asian · 413/44,212 alleles
Filtering AF
0.86%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.83%
Overall
0.0465%
741/1,593,188 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.934% | 107 |
| Remaining individualsnot grpmax-eligible | 0.0845% | 1,184 |
| Admixed American | 0.0285% | 3,506 |
| European (non-Finnish) | 0.0204% | 4,912 |
| Finnishnot grpmax-eligible | 0.0125% | 7,975 |
| South Asian | 0.009% | 11,111 |
| African / African-American | 0.00803% | 12,454 |
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
- DNAH17
- Protein
- p.Pro1818=
- Coding
- c.5454G>A
- MANE Select
- NM_173628
- dbSNP
- rs117111854
- Type
- single nucleotide variant
- Location
- chr17:78501213 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Residue 1818
- a UniProt-annotated variant site (in spgf39); the 'aaa 1' region
Similar variants
- DNAH17 c.7752+2T>A Pathogenic/Likely pathogenic ★★ same type
- DNAH17 p.Ala1014Val Uncertain significance ★★ ⚠ same type
- DNAH17 p.Arg1217Thr Uncertain significance ★★ ⚠ same type
- DNAH17 p.Arg2941Gln Uncertain significance ★★ same type
- DNAH17 p.Arg4050Gln Uncertain significance ★★ same type
- DNAH17 p.Arg4101Gln Uncertain significance ★★ ⚠ same type
- DNAH17 p.Arg4246His Uncertain significance ★★ ⚠ same type
- DNAH17 p.Arg4303Cys 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/dnah17-p-pro1818 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown