Is CFAP298 p.Ile184= (c.552T>A) pathogenic?

CFAP298 p.Ile184= (c.552T>A) is classified Likely benign in CFAP298 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-07-02). Ultra-rare (popmax 0.034%, sas); Associated with primary ciliary dyskinesia 26.

What condition is associated with CFAP298 p.Ile184= (c.552T>A)?

CFAP298 p.Ile184= (c.552T>A) is associated with primary ciliary dyskinesia 26 (ClinVar).

How common is CFAP298 p.Ile184= (c.552T>A) in the general population?

CFAP298 p.Ile184= (c.552T>A) is ultra-rare (popmax 0.034%, sas) (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

CFAP298 p.Ile184=

c.552T>A · rs145152970 · VCV697710

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.034%, sas)

Conditions

primary ciliary dyskinesia 26

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 -0.58	GERP -3.1
Overall
CADD	0.802	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.034% South Asian · 31/91,050 alleles

Filtering AF 0.0246% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0214%

Overall 0.00954% 154/1,613,662 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.034%	2,937
European (non-Finnish)	0.0101%	9,914
Remaining individualsnot grpmax-eligible	0.0064%	15,619

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: CFAP298
Protein: p.Ile184=
Coding: c.552T>A
MANE Select: NM_021254
dbSNP: rs145152970
Type: single nucleotide variant
Location: chr21:32603275 (GRCh38)
Gene constraint: LOEUF 1.267 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.54

Full CFAP298 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 26 — 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

CFAP298 p.Arg98Ter Pathogenic/Likely pathogenic ★★ same condition
CFAP298 p.Gln225Ter Pathogenic ★★ same condition
CFAP298 p.Asp141Gly Uncertain significance ★★ ⚠ same condition
CFAP298 c.308-16C>G Benign ★★ same condition
CFAP298 p.Val208Met Benign/Likely benign ★★ ⚠ same condition
CFAP298 p.Gln241Ter Pathogenic ★ same condition
CFAP298 p.Gln190fs Pathogenic/Likely pathogenic ★★ same condition
CFAP298 p.Arg277fs 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/cfap298-p-ile184 (accessed [today's date]).

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