LRRC32

Chr 11

leucine rich repeat containing 32

Also known as: CPPRDD, D11S833E, GARP

NCBI Gene: 2615 ENSG00000137507 UniProt: Q14392

This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCleft palate, proliferative retinopathy, and developmental delay

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

LOEUF

Multiple*

Mechanism· predicted

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?

0.92LOEUF

pLI 0.001

Z-score 1.78

OE 0.49 (0.28–0.92)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.09Z-score

OE missense 0.99 (0.91–1.07)

393 obs / 398.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.49 (0.28–0.92)

0≤0.351.4

Missense OE?0.99 (0.91–1.07)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 7 / 14.3Missense obs/exp: 393 / 398.0Syn Z: -1.17

Background carrier burden — how many people carry a rare variant somewhere in LRRC32?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

864 rare PASS variants

Rare truncating (LoF)

1 in 6,100

44 rare PASS variants

Rare synonymous (reference)

1 in 120

420 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC32. 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 72	1 in 10,000
South Asian	~43k	1 in 41	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 49	≈ 1 in 15,000
European (Finnish)	~27k	1 in 130	≈ 1 in 27,000
Admixed American	~22k	1 in 44	≈ 1 in 7,600
African / African American	~21k	1 in 49	1 in 1,500
East Asian	~20k	1 in 41	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 680	none seen
Middle Eastern	~2,884	1 in 52	none seen

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): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓