MYEOV

Chr 11

myeloma overexpressed

Also known as: OCIM

NCBI Gene: 26579 ENSG00000172927 UniProt: Q96EZ4

The MYEOV protein is involved in myeloma cell proliferation and may play a role in cellular growth regulation. Mutations cause autosomal dominant hearing loss, typically presenting as nonsyndromic sensorineural hearing impairment. This gene shows low constraint against loss-of-function variants, suggesting tolerance to such mutations in the general population.

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

GOF

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?

1.93LOEUF

pLI 0.003

Z-score -0.64

OE 1.48 (0.56–1.93)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.42Z-score

OE missense 1.09 (0.97–1.22)

198 obs / 181.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.48 (0.56–1.93)

0≤0.351.4

Missense OE?1.09 (0.97–1.22)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 3 / 2.0Missense obs/exp: 198 / 181.9Syn Z: -0.80

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 78

427 rare PASS variants

Rare truncating (LoF)

1 in 440

58 rare PASS variants

Rare synonymous (reference)

1 in 230

192 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MYEOV. 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 1,900
South Asian	~43k	1 in 76	1 in 960
Remaining (unassigned)	~30k	1 in 71	1 in 430
European (Finnish)	~27k	1 in 160	1 in 5,200
Admixed American	~22k	1 in 110	1 in 1,200
African / African American	~21k	1 in 99	1 in 2,300
East Asian	~20k	1 in 78	1 in 4,000
Ashkenazi Jewish	~13k	1 in 220	none seen
Middle Eastern	~2,884	1 in 75	≈ 1 in 940

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 ↓