DNAH5 p.Pro2467fs
c.7400del · VCV3591772
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
primary ciliary dyskinesia 3
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 44 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.32 | GERP -5.4 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DNAH5
- Protein
- p.Pro2467fs
- Coding
- c.7400del
- MANE Select
- NM_001369
- Type
- Deletion
- Location
- chr5:13811654 (GRCh38)
- Gene constraint
- LOEUF 0.764 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Disease context
primary ciliary dyskinesia 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Primary ciliary dyskinesia (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Onset
- Neonatal
- Prevalence
- 1-5 / 10 000 (Pakistan)
Similar variants
- DNAH5 c.54_57+5del Likely pathogenic ★★ same condition
- DNAH5 c.7609+1_7609+3del Pathogenic/Likely pathogenic ★★ same condition
- DNAH5 p.Ala278fs Pathogenic/Likely pathogenic ★★ same condition
- DNAH5 p.Ala3121_Leu3122insTer Pathogenic/Likely pathogenic ★★ same condition
- DNAH5 p.Ala4354fs Pathogenic/Likely pathogenic ★★ same condition
- DNAH5 p.Arg3000fs Pathogenic/Likely pathogenic ★★ same condition
- DNAH5 p.Asn1438fs Pathogenic/Likely pathogenic ★★ same condition
- DNAH5 p.Asp1852fs Pathogenic/Likely pathogenic ★★ 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/dnah5-p-pro2467fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown