LRRC28

Chr 15

leucine rich repeat containing 28

NCBI Gene: 123355 ENSG00000168904 UniProt: Q86X40

The LRRC28 protein is predicted to be involved in intracellular signal transduction. Mutations cause autosomal recessive disorders, though specific phenotypes are not well-characterized in the current literature. The gene shows very low constraint against loss-of-function variants (pLI near zero), suggesting tolerance to such mutations.

ResearchSummary from RefSeq

Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Jul 2025]

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

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in LRRC28?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

483 rare PASS variants

Rare truncating (LoF)

1 in 1,400

97 rare PASS variants

Rare synonymous (reference)

1 in 300

205 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC28. 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 210	1 in 1,900
South Asian	~43k	1 in 110	1 in 1,700
Remaining (unassigned)	~30k	1 in 160	1 in 2,700
European (Finnish)	~27k	1 in 330	1 in 720
Admixed American	~22k	1 in 120	1 in 1,500
African / African American	~21k	1 in 120	1 in 850
East Asian	~20k	1 in 140	1 in 3,200
Ashkenazi Jewish	~13k	≈ 1 in 6,500	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 140	≈ 1 in 2,700

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.