DNAH17 p.Val1286=
c.3858T>G · VCV3771142
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.004%, 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 -1.7 | GERP -4 |
| Overall | ||
| CADD | 0.122 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.004%
African / African-American · 3/74,982 alleles
Filtering AF
0.00157%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00134%
Overall
0.00192%
31/1,612,406 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.004% | 24,994 |
| European (non-Finnish) | 0.00229% | 43,664 |
| East Asian | 0.00223% | 44,830 |
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.Val1286=
- Coding
- c.3858T>G
- MANE Select
- NM_173628
- Type
- single nucleotide variant
- Location
- chr17:78525015 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Residue 1286
- a UniProt-annotated variant site (in spgf39); the 'stem' 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-val1286 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown