ARMC3

Chr 10

armadillo repeat containing 3

Also known as: CT81, KU-CT-1, VAC8

NCBI Gene: 219681 ENSG00000165309 UniProt: Q5W041 OMIM: 611226

ARMC3 encodes a protein essential for male fertility and sperm motility that promotes autophagic degradation of ribosomes during spermatogenesis to provide energy for mitochondria. Mutations cause primary ciliary dyskinesia, an autosomal recessive disorder affecting respiratory cilia and sperm flagella, leading to chronic respiratory infections, bronchiectasis, and male infertility. The gene shows very low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ARMC3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 53

1,033 rare PASS variants

Rare truncating (LoF)

1 in 670

195 rare PASS variants

Rare synonymous (reference)

1 in 120

360 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ARMC3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 81	1 in 870
South Asian	~43k	1 in 48	1 in 480
Remaining (unassigned)	~30k	1 in 65	1 in 810
European (Finnish)	~27k	1 in 150	1 in 570
Admixed American	~22k	1 in 55	1 in 840
African / African American	~21k	1 in 46	1 in 650
East Asian	~20k	1 in 61	1 in 320
Ashkenazi Jewish	~13k	1 in 250	1 in 1,400
Middle Eastern	~2,884	1 in 67	1 in 480

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.