Is DNAI1 p.Asp296fs (c.885_886dup) pathogenic?

DNAI1 p.Asp296fs (c.885886dup) is classified Pathogenic in DNAI1 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-10-26). Very rare (popmax 0.00017%, nfe); Associated with primary ciliary dyskinesia 1.

What condition is associated with DNAI1 p.Asp296fs (c.885_886dup)?

DNAI1 p.Asp296fs (c.885_886dup) is associated with primary ciliary dyskinesia 1, primary ciliary dyskinesia (ClinVar).

How common is DNAI1 p.Asp296fs (c.885_886dup) in the general population?

DNAI1 p.Asp296fs (c.885_886dup) is very rare (popmax 0.00017%, nfe) (gnomAD).

How is Primary ciliary dyskinesia inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

DNAI1 p.Asp296fs

c.885_886dup · rs2492058692 · VCV2172661

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00017%, nfe)

Conditions

primary ciliary dyskinesia 1

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 10 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.4	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00017% European (non-Finnish) · 2/1,179,740 alleles

Filtering AF 2.8e-05% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.1e-05%

Overall 0.000137% 2/1,461,550 alleles · very rare

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: DNAI1
Protein: p.Asp296fs
Coding: c.885_886dup
MANE Select: NM_012144
dbSNP: rs2492058692
Type: Duplication
Location: chr9:34497182 (GRCh38)
Gene constraint: LOEUF 0.854 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.54 · 1 PDB

Full DNAI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: primary ciliary dyskinesia

For Primary ciliary dyskinesia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Neonatal
Prevalence: 1-5 / 10 000 (Pakistan)

Similar variants

DNAI1 c.48+2dup Pathogenic ★★ same condition
DNAI1 p.Ala501fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Ala60fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Arg186fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Phe66Ter Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Tyr91Ter Pathogenic/Likely pathogenic ★★ same condition
DNAI1 c.1020-5dup Benign/Likely benign ★★ same condition
DNAI1 p.Arg218fs 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/dnai1-p-asp296fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown