LRRC42

Chr 1

leucine rich repeat containing 42

Also known as: dJ167A19.4

NCBI Gene: 115353 ENSG00000116212 UniProt: Q9Y546

This protein is a leucine-rich repeat containing protein with unknown specific function. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting ciliary motility that presents with chronic respiratory tract infections, bronchiectasis, and often situs inversus. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

Research

ResearchGenerating clinical summary…

LOEUF 1.12

Clinical Summary— LRRC42

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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

53 VUS of 68 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.000

Z-score 1.15

OE 0.73 (0.48–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.22Z-score

OE missense 1.04 (0.94–1.16)

244 obs / 234.5 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.73 (0.48–1.12)

0≤0.351.4

Missense OE?1.04 (0.94–1.16)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 15 / 20.6Missense obs/exp: 244 / 234.5Syn Z: 0.70

ClinVar Variant Classifications

68 submitted variants in ClinVar

ClinVar

Classification Summary

VUS53

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	53	53
Likely Benign	3	3
Benign	0	0
Total	56	56

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

View in ClinVar →

12 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap LRRC42 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →