LSMEM1

Chr 7

leucine rich single-pass membrane protein 1

Also known as: C7orf53

NCBI Gene: 286006 ENSG00000181016 UniProt: Q8N8F7

Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Research

Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.82

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.82LOEUF

pLI 0.000

Z-score -0.05

OE 1.03 (0.52–1.82)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.20Z-score

OE missense 1.07 (0.89–1.29)

75 obs / 70.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.03 (0.52–1.82)

0≤0.351.4

Missense OE?1.07 (0.89–1.29)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 5 / 4.9Missense obs/exp: 75 / 70.2Syn Z: 0.16

Background carrier burden — how many people carry a rare variant somewhere in LSMEM1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 330

162 rare PASS variants

Rare truncating (LoF)

1 in 3,900

33 rare PASS variants

Rare synonymous (reference)

1 in 1,700

70 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LSMEM1. 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 520	1 in 4,300
South Asian	~43k	1 in 340	1 in 2,100
Remaining (unassigned)	~30k	1 in 550	1 in 4,300
European (Finnish)	~27k	1 in 860	≈ 1 in 13,000
Admixed American	~22k	1 in 310	≈ 1 in 5,500
African / African American	~21k	1 in 210	1 in 1,000
East Asian	~20k	1 in 270	1 in 2,800
Ashkenazi Jewish	~13k	1 in 520	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 240	≈ 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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓