DNAH17 p.Ile2193=
c.6579C>T · VCV4533982
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0164%, mid)
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 -0.25 | GERP -1.4, phastCons 0.009 |
| Overall | ||
| CADD | 9.074 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0164%
Middle Eastern · 1/6,082 alleles
Filtering AF
0.00664%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00616%
Overall
0.00613%
99/1,613,930 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0164% | 6,082 |
| European (non-Finnish) | 0.00797% | 12,553 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,824 |
| African / African-American | 0.00133% | 74,942 |
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.Ile2193=
- Coding
- c.6579C>T
- MANE Select
- NM_173628
- Type
- single nucleotide variant
- Location
- chr17:78491533 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Residue 2193
- a UniProt-annotated variant site (in spgf39); the 'aaa 2' 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-ile2193 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown