LRRC51

Chr 11AR

leucine rich repeat containing 51

NCBI Gene: 120356739 ENSG00000184154 UniProt: Q96E66 OMIM: 612414

This gene belongs to the leucine-rich repeat containing family. The encoded protein contains a transmembrane domain and two leucine-rich repeat domains. Unlike in mouse and other mammals, readthrough transcription is observed in primates between this gene and the adjacent transmembrane O-methyltransferase (Tomt) gene. Previously, this locus was annotated as a single gene representing the readthrough transcripts as well as the two different transcript species that encoded different proteins. It has since been split into three genes, including the two stand-alone genes and a third gene representing the readthrough transcription. [provided by RefSeq, Feb 2022]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Deafness, autosomal recessive 63MIM #611451

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Deafness, autosomal recessive 63; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.20

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.20LOEUF

pLI 0.000

Z-score 1.07

OE 0.67 (0.39–1.20)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.09Z-score

OE missense 0.76 (0.66–0.88)

128 obs / 167.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.67 (0.39–1.20)

0≤0.351.4

Missense OE?0.76 (0.66–0.88)

0≤0.61.4

Synonymous OE?0.65

0≤1.21.6

LoF obs/exp: 8 / 12.0Missense obs/exp: 128 / 167.9Syn Z: 2.23

Background carrier burden — how many people carry a rare variant somewhere in LRRC51?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

266 rare PASS variants

Rare truncating (LoF)

1 in 2,000

57 rare PASS variants

Rare synonymous (reference)

1 in 430

111 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LRRC51. 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 450	1 in 2,800
South Asian	~43k	1 in 130	1 in 1,700
Remaining (unassigned)	~30k	1 in 150	1 in 1,500
European (Finnish)	~27k	1 in 1,800	1 in 5,300
Admixed American	~22k	1 in 220	1 in 410
African / African American	~21k	1 in 120	1 in 280
East Asian	~20k	1 in 380	≈ 1 in 4,000
Ashkenazi Jewish	~13k	1 in 290	1 in 500
Middle Eastern	~2,884	1 in 240	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 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓