Is ODAD2 p.Phe51fs (c.150dup) pathogenic?

ODAD2 p.Phe51fs (c.150dup) is classified Likely pathogenic in ODAD2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-11). Associated with primary ciliary dyskinesia 23.

What condition is associated with ODAD2 p.Phe51fs (c.150dup)?

ODAD2 p.Phe51fs (c.150dup) is associated with primary ciliary dyskinesia 23 (ClinVar).

How is Primary ciliary dyskinesia inherited?

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

ODAD2 p.Phe51fs

c.150dup · VCV3777133

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

primary ciliary dyskinesia 23

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 2 of 20
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.3, phastCons 1
Region caveats
Repeat context	seg dup	· reads may not map uniquely · confidence, not pathogenicity

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

Variant & gene context

Gene: ODAD2
Protein: p.Phe51fs
Coding: c.150dup
MANE Select: NM_018076
Type: Duplication
Location: chr10:27994992 (GRCh38)
Gene constraint: LOEUF 0.977 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.63 · 1 PDB

Full ODAD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 23 — 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

ODAD2 c.1534-18dup Benign/Likely benign ★★ same condition
ODAD2 c.383-19dup Benign/Likely benign ★★ same condition
ODAD2 c.1143-487_1986+160dup Likely pathogenic ★ same condition
ODAD2 p.Ala671fs Likely pathogenic ★ same condition
ODAD2 p.Ala734fs Pathogenic ★ same condition
ODAD2 p.His189fs Pathogenic ★ same condition
ODAD2 p.Ile517fs Pathogenic ★ same condition
ODAD2 p.Leu119fs 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/odad2-p-phe51fs (accessed [today's date]).

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