TMCO5A

Chr 15

transmembrane and coiled-coil domains 5A

Also known as: TMCO5

NCBI Gene: 145942 ENSG00000166069 UniProt: Q8N6Q1

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

Research

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

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.04

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?

1.04LOEUF

pLI 0.000

Z-score 1.45

OE 0.63 (0.39–1.04)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.02Z-score

OE missense 0.99 (0.87–1.14)

143 obs / 143.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.63 (0.39–1.04)

0≤0.351.4

Missense OE?0.99 (0.87–1.14)

0≤0.61.4

Synonymous OE?1.24

0≤1.21.6

LoF obs/exp: 11 / 17.5Missense obs/exp: 143 / 143.8Syn Z: -1.41

Background carrier burden — how many people carry a rare variant somewhere in TMCO5A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 300

388 rare PASS variants

Rare truncating (LoF)

1 in 860

74 rare PASS variants

Rare synonymous (reference)

1 in 210

142 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TMCO5A; 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 250	1 in 1,200
South Asian	~43k	1 in 150	1 in 3,000
Remaining (unassigned)	~30k	1 in 250	1 in 560
European (Finnish)	~27k	1 in 1,700	≈ 1 in 8,900
Admixed American	~22k	1 in 160	1 in 3,600
African / African American	~21k	1 in 120	1 in 1,100
East Asian	~20k	1 in 150	1 in 950
Ashkenazi Jewish	~13k	1 in 350	none seen
Middle Eastern	~2,879	1 in 360	≈ 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): 9 of 10 coding exons well covered in gnomAD exomes; exon 11 marginal. Genomes: all 10.? see exons ↓