DNAH17 p.Pro1432=
c.4296G>A · rs185987859 · VCV3051638
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.127%, 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 |
| Overall | ||
| CADD | 0.422 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.127%
East Asian · 57/44,752 alleles
Filtering AF
0.101%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0914%
Overall
0.00937%
150/1,600,942 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.127% | 785 |
| African / African-American | 0.0707% | 1,415 |
| Remaining individualsnot grpmax-eligible | 0.00802% | 12,468 |
| South Asian | 0.00773% | 12,933 |
| Admixed American | 0.00337% | 29,713 |
| European (non-Finnish) | 0.00221% | 45,325 |
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.Pro1432=
- Coding
- c.4296G>A
- MANE Select
- NM_173628
- dbSNP
- rs185987859
- Type
- single nucleotide variant
- Location
- chr17:78507746 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Residue 1432
- a UniProt-annotated variant site (in spgf39); the 'stem' region
Similar variants
- DNAH17 p.Pro1432Leu Uncertain significance ★ ⚠ same residue
- 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
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-pro1432 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown