DNAH8 p.Pro3728=
c.11184C>T · rs114401631 · VCV3038416
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0174%, afr)
Conditions
1
DNAH8-related disorder
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 -0.84 | GERP -5.5, phastCons 0.003 |
| Overall | ||
| CADD | 4.622 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0174%
African / African-American · 13/74,798 alleles
Filtering AF
0.0103%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00814%
Overall
0.000868%
14/1,612,540 alleles · ultra-rare
exomes 4/1,460,990 · genomes 10/151,550 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0174% | 5,754 |
| European (non-Finnish) | 8.48e-05% | 1,179,359 |
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
- DNAH8
- Protein
- p.Pro3728=
- Coding
- c.11184C>T
- MANE Select
- NM_001206927
- dbSNP
- rs114401631
- Type
- single nucleotide variant
- Location
- chr6:38929576 (GRCh38)
- Gene constraint
- LOEUF 0.692 · pLI <0.01 (gnomAD)
- Residue 3728
- a UniProt-annotated variant site (found in a patient with primary ciliary dyskinesia; uncertain significance)
Disease context
DNAH8-related disorder
Similar variants
- DNAH8 p.Pro3728Ala Uncertain significance ★★ ⚠ same residue
- DNAH8 p.Pro3728Ser Likely benign ★★ same residue
- DNAH8 p.Trp2622Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAH8 p.Trp973Ter Pathogenic/Likely pathogenic ★★ same condition
- DNAH8 p.Asn336Thr Uncertain significance ★★ ⚠ same condition
- DNAH8 p.His695Asp Uncertain significance ★★ same condition
- DNAH8 p.Ala3528Thr Uncertain significance ★ same condition
- DNAH8 p.Asn225Asp Uncertain significance ★ ⚠ same condition
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/dnah8-p-pro3728 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown