Is DNAI1 p.Ser115fs (c.342del) pathogenic?

DNAI1 p.Ser115fs (c.342del) is classified Pathogenic in DNAI1 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-29). Absent from gnomAD; Associated with primary ciliary dyskinesia.

What condition is associated with DNAI1 p.Ser115fs (c.342del)?

DNAI1 p.Ser115fs (c.342del) is associated with primary ciliary dyskinesia (ClinVar).

How common is DNAI1 p.Ser115fs (c.342del) in the general population?

DNAI1 p.Ser115fs (c.342del) is absent from gnomAD (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.Ser115fs

c.342del · rs2492032478 · VCV1731355

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

primary ciliary dyskinesia

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 5 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.9, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DNAI1
Protein: p.Ser115fs
Coding: c.342del
MANE Select: NM_012144
dbSNP: rs2492032478
Type: Deletion
Location: chr9:34489403 (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 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Primary ciliary dyskinesia (Orphanet):

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

Similar variants

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DNAI1 p.Asn450fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Asp114fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Asp509_Tyr510insTer Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Leu188_Thr189insTer Pathogenic ★★ same condition
DNAI1 p.Pro488fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Pro52fs Pathogenic/Likely pathogenic ★★ same condition
DNAI1 p.Ser547_Trp548insTer 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-ser115fs (accessed [today's date]).

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