MYO15B

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

Basic information

Region (hg38): 17:75587799-75626849

Links

ENSG00000266714 ∙ NCBI:80022 ∙ ∙ HGNC:14083 ∙ Uniprot:Q96JP2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO15B gene.

• not provided (10 variants)
• Congenital myopathy (2 variants)
• Hereditary cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO15B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				10		10
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding					1	1
Total	0	0	2	10	1

Variants in MYO15B

This is a list of pathogenic ClinVar variants found in the MYO15B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-75589380-T-G			Likely benign (Oct 01, 2022)
17-75589548-A-G			Likely benign (May 01, 2022)
17-75590629-G-A			Likely benign (Sep 01, 2022)
17-75592051-C-T			Likely benign (Aug 01, 2022)
17-75592082-T-A		Congenital myopathy	Uncertain significance (Dec 20, 2023)
17-75592792-G-A			Likely benign (Jun 01, 2022)
17-75596531-C-T			Likely benign (Oct 01, 2022)
17-75610953-A-G			Likely benign (Feb 01, 2023)
17-75615839-G-A			Likely benign (Apr 01, 2022)
17-75623807-T-G		Congenital myopathy	Uncertain significance (Dec 20, 2023)
17-75623873-C-G		Hereditary cancer	Benign (Jan 23, 2024)
17-75624408-G-A			Likely benign (Sep 01, 2022)
17-75625935-G-A			Likely benign (Apr 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO15B	protein_coding	protein_coding	ENST00000583560	8	38791

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000491	0.888	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.520	129	147	0.879	0.00000982	1620
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.115

Haploinsufficiency Scores

• pHI: 0.150

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.496

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo15b

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;cytoplasm;myosin complex
• Molecular function: molecular_function;motor activity;ATP binding