LRRC49

Chr 15

leucine rich repeat containing 49

Also known as: CSTPP2, PGs4

NCBI Gene: 54839 ENSG00000137821 UniProt: Q8IUZ0 OMIM: 620497

Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Located in centriolar satellite. [provided by Alliance of Genome Resources, Jul 2025]

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

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 LRRC49?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 76

830 rare PASS variants

Rare truncating (LoF)

1 in 1,200

140 rare PASS variants

Rare synonymous (reference)

1 in 150

311 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC49. 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 100	1 in 1,000
South Asian	~43k	1 in 69	1 in 2,400
Remaining (unassigned)	~30k	1 in 59	1 in 2,700
European (Finnish)	~27k	1 in 190	≈ 1 in 6,700
Admixed American	~22k	1 in 62	1 in 2,000
African / African American	~21k	1 in 78	1 in 2,300
East Asian	~20k	1 in 87	1 in 580
Ashkenazi Jewish	~13k	1 in 420	none seen
Middle Eastern	~2,884	1 in 99	≈ 1 in 2,900

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.

Exome coverage (gnomAD): 13 of 16 coding exons well covered in gnomAD exomes; exons 3, 4, 6 marginal. Genomes: all 16.? see exons ↓