MYO15B

protein-coding

myosin XVB, the group of Myosin heavy chains, class XV|FERM domain containing

Gene summary

Predicted to enable ATP binding activity; actin binding activity; and cytoskeletal motor activity. Predicted to be located in several cellular components, including brush border; cytoskeleton; and plasma membrane bounded cell projection. Predicted to be part of myosin complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001395058.1

Inheritance

—

ClinVar variants

U:19B:10

Top phenotype

Congenital myopathy

gnomAD constraint

pLI —, LoF o/e 0.57

Max pathogenic AF

—

Genomic locus

chr17:75,587,800-75,626,849

External References & Databases

Ensembl (ENSG00000266714)

Transcript & Mutation Effects

hg38 • Region Span ~39.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYO15B variants in ClinVar

3 Conditions Cataloged

not providedTotal: 10

Congenital myopathyTotal: 2

Hereditary cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395058.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	10 clinvar		11
missense			6 clinvar			6
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	19	10	0	29

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 49 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395058.1	RefSeq	NP_001381987.1	64	MANE Select
ENST00000645453.3	Ensembl	ENSP00000495242.3	64	MANE Select
NM_001309242.2	RefSeq	NP_001296171.1	63	Standard
ENST00000577342.5	Ensembl	ENSP00000488316.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function
motor activity
ATP binding

Cellular Component

cellular_component
cytoplasm
myosin complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000583560
Coding exons: 8
Length: 38791
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.520	129	147	0.879	0.00000982	1620
Missense (PolyPhen)		24	35.961	0.66738		474
Synonymous	1.31	45	57.7	0.780	0.00000323	536
Loss of Function	1.41	7	12.4	0.566	5.83e-7	149

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Unknown, due to the absence of a functional motor domain.;

Recessive Scores

pRec: 0.115

Essentials

Indispensability pred.: N
Indispensability score: 0.496

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High