MYO5C

Chr 15

myosin VC

NCBI Gene: 55930 ENSG00000128833 UniProt: Q9NQX4 OMIM: 610022

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in actin filament organization and endocytosis. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.84LOEUF

pLI 0.000

Z-score 2.91

OE 0.70 (0.58–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.48Z-score

OE missense 0.96 (0.91–1.01)

915 obs / 957.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.58–0.84)

0≤0.351.4

Missense OE?0.96 (0.91–1.01)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 74 / 106.4Missense obs/exp: 915 / 957.0Syn Z: 0.71

Background carrier burden — how many people carry a rare variant somewhere in MYO5C?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 30

2,182 rare PASS variants

Rare truncating (LoF)

1 in 460

371 rare PASS variants

Rare synonymous (reference)

1 in 60

760 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MYO5C. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 34 of 41 coding exons well covered in gnomAD exomes; exons 1, 7, 8, 30, 33 and 2 more marginal. Genomes: all 41.? see exons ↓