LRRC34

Chr 3

leucine rich repeat containing 34

NCBI Gene: 151827 ENSG00000171757 UniProt: Q8IZ02

Predicted to be involved in cell differentiation. Predicted to act upstream of or within gene expression and telomere maintenance. Predicted to be located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.00

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?

1.00LOEUF

pLI 0.000

Z-score 1.57

OE 0.63 (0.41–1.00)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.18Z-score

OE missense 0.97 (0.87–1.08)

225 obs / 232.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.63 (0.41–1.00)

0≤0.351.4

Missense OE?0.97 (0.87–1.08)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 13 / 20.7Missense obs/exp: 225 / 232.9Syn Z: 0.61

Background carrier burden — how many people carry a rare variant somewhere in LRRC34?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

543 rare PASS variants

Rare truncating (LoF)

1 in 480

132 rare PASS variants

Rare synonymous (reference)

1 in 260

204 rare PASS variants

Rare missense and truncating variants are carried at similar rates in LRRC34; this gene does not show strong loss-of-function constraint by this measure. 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 140	1 in 430
South Asian	~43k	1 in 130	1 in 450
Remaining (unassigned)	~30k	1 in 82	1 in 550
European (Finnish)	~27k	1 in 390	1 in 1,300
Admixed American	~22k	1 in 97	1 in 1,400
African / African American	~21k	1 in 88	1 in 1,700
East Asian	~20k	1 in 97	1 in 670
Ashkenazi Jewish	~13k	1 in 1,300	1 in 580
Middle Eastern	~2,882	1 in 79	1 in 260

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.

Exome coverage (gnomAD): 8 of 11 coding exons well covered in gnomAD exomes; exons 2, 5, 6 marginal. Genomes: 10 of 11 (exon 3 below).? see exons ↓