DNAAF5

Chr 7AR

dynein axonemal assembly factor 5

Also known as: CILD18, HEATR2

NCBI Gene: 54919 ENSG00000164818 UniProt: Q86Y56 OMIM: 614864

The protein is required for assembly of axonemal dynein inner and outer arms, which are essential for cilium motility. Mutations cause primary ciliary dyskinesia-18, characterized by abnormalities of motile cilia affecting the respiratory tract, fertility, and laterality determination. Inheritance is autosomal recessive.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

GeneReviews OMIM ResearchGenerating clinical summary…

ARLOEUF 0.941 OMIM phenotype

Clinical Summary— DNAAF5

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Gene-Disease Validity (ClinGen)

primary ciliary dyskinesia 18 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

55 unique Pathogenic / Likely Pathogenic· 354 VUS of 914 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — DNAAF5

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.94LOEUF

pLI 0.000

Z-score 1.85

OE 0.65 (0.46–0.94)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.00Z-score

OE missense 1.00 (0.92–1.08)

440 obs / 440.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.46–0.94)

0≤0.351.4

Missense OE?1.00 (0.92–1.08)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 21 / 32.3Missense obs/exp: 440 / 440.1Syn Z: -1.37

ClinVar Variant Classifications

914 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40

Likely Pathogenic15

VUS354

Likely Benign405

Benign62

Conflicting24

Pathogenic

Likely Pathogenic

354

VUS

405

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	36	0	4	0	40
Likely Pathogenic	11	3	1	0	15
VUS	2	341	10	1	354
Likely Benign	0	27	108	270	405
Benign	0	4	50	8	62
Conflicting	—				24
Total	49	375	173	279	900

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

40 pathogenic / likely-pathogenic (of 55) ClinVar copy-number / structural variants overlap DNAAF5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →