Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 78.6%, amr) — too common for a highly-penetrant pathogenic allele
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 0.12 | GERP -4.1, phastCons 0.001 |
| Overall | ||
| CADD | 7.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
78.6%
Admixed American · 47,188/60,014 alleles
Filtering AF
78%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 77.8%
Overall
65.6%
1,058,054/1,613,636 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 78.6% | 1 |
| South Asian | 72.6% | 1 |
| Middle Eastern | 69.6% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 69.5% | 1 |
| Amishnot grpmax-eligible | 69.1% | 1 |
| Remaining individualsnot grpmax-eligible | 66.1% | 2 |
| European (non-Finnish) | 65.3% | 2 |
| East Asian | 59.6% | 2 |
| Finnishnot grpmax-eligible | 58.7% | 2 |
| African / African-American | 57.5% | 2 |
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.Ile2325=
- Coding
- c.6975T>C
- MANE Select
- NM_173628
- dbSNP
- rs691151
- Type
- single nucleotide variant
- Location
- chr17:78486350 (GRCh38)
- Gene constraint
- LOEUF 0.859 · pLI <0.01 (gnomAD)
- Residue 2325
- a UniProt-annotated variant site (in spgf39)
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-ile2325 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown