MYOM1

myomesin 1, the group of I-set domain containing|Myosin binding proteins

Basic information

Region (hg38): 18:3066807-3219968

Links

ENSG00000101605 ∙ NCBI:8736 ∙ OMIM:603508 ∙ HGNC:7613 ∙ Uniprot:P52179 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hypertrophic cardiomyopathy (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYOM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOM1 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	356	4	370
missense			751	24	17	792
nonsense			24			24
start loss						0
frameshift			37	1		38
inframe indel			19	1		20
splice donor/acceptor (+/-2bp)			13	2		15
splice region			35	50	6	91
non coding			6	124	147	277
Total	0	0	860	508	168

Variants in MYOM1

This is a list of pathogenic ClinVar variants found in the MYOM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-3067063-A-C			Benign (May 13, 2021)
18-3067252-G-A		not specified	Uncertain significance (Nov 11, 2015)
18-3067264-A-AT		Hypertrophic cardiomyopathy	Uncertain significance (Nov 24, 2021)
18-3067274-C-CT		not specified • Hypertrophic cardiomyopathy	Likely benign (Dec 21, 2023)
18-3067278-C-A		not specified	Uncertain significance (Oct 27, 2022)
18-3067279-C-G			Uncertain significance (Oct 01, 2020)
18-3067279-C-T		not specified	Uncertain significance (Oct 30, 2022)
18-3067279-CA-TG		Hypertrophic cardiomyopathy	Uncertain significance (Jan 30, 2021)
18-3067280-A-G		not specified • Hypertrophic cardiomyopathy	Benign (Feb 01, 2024)
18-3067280-AC-GT		Hypertrophic cardiomyopathy	Uncertain significance (Oct 25, 2022)
18-3067282-C-G		Hypertrophic cardiomyopathy	Uncertain significance (Jul 07, 2023)
18-3067282-C-T		not specified	Uncertain significance (Oct 16, 2023)
18-3067300-C-T		not specified	Uncertain significance (Jun 01, 2023)
18-3067301-G-A		Hypertrophic cardiomyopathy • not specified	Benign/Likely benign (Jan 15, 2024)
18-3067302-G-A		Hypertrophic cardiomyopathy	Uncertain significance (Dec 30, 2023)
18-3067310-C-T		Hypertrophic cardiomyopathy • not specified	Likely benign (May 31, 2023)
18-3067311-G-T		not specified	Uncertain significance (Feb 20, 2023)
18-3067314-T-TAC		Hypertrophic cardiomyopathy	Uncertain significance (Dec 04, 2022)
18-3067318-C-T		Hypertrophic cardiomyopathy • not specified	Uncertain significance (Feb 13, 2024)
18-3067319-C-T		not specified • Hypertrophic cardiomyopathy • MYOM1-related disorder	Likely benign (Jan 25, 2024)
18-3067325-G-A		Hypertrophic cardiomyopathy • not specified	Likely benign (Oct 13, 2023)
18-3067327-T-C		not specified	Uncertain significance (Jun 14, 2023)
18-3067333-C-T		Non-immune hydrops fetalis • Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity (May 22, 2023)
18-3067334-G-A		Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity (Nov 08, 2022)
18-3067339-C-T		Hypertrophic cardiomyopathy • not specified	Conflicting classifications of pathogenicity (Jun 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOM1	protein_coding	protein_coding	ENST00000356443	37	153302

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.73e-40	0.00449	124445	0	251	124696	0.00101

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.618	920	974	0.944	0.0000579	10960
Missense in Polyphen		315	363.6	0.86634		4053
Synonymous	-0.0177	377	377	1.00	0.0000244	3220
Loss of Function	1.93	73	93.1	0.784	0.00000492	1114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00279	0.00255
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.00233	0.00228
Finnish	0.000140	0.000139
European (Non-Finnish)	0.000903	0.000885
Middle Eastern	0.00233	0.00228
South Asian	0.00129	0.00124
Other	0.000836	0.000825

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
• Pathway: Striated Muscle Contraction (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• rvis_EVS: 0.56
• rvis_percentile_EVS: 81.68

Haploinsufficiency Scores

• pHI: 0.119
• hipred: Y
• hipred_score: 0.540
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.115

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myom1

Gene ontology

• Biological process: extraocular skeletal muscle development;muscle contraction;positive regulation of gene expression;protein kinase A signaling;skeletal muscle thin filament assembly;skeletal muscle myosin thick filament assembly;sarcomere organization;cardiac muscle fiber development;positive regulation of protein secretion;cardiac myofibril assembly;cardiac muscle tissue morphogenesis;striated muscle myosin thick filament assembly
• Cellular component: striated muscle myosin thick filament;striated muscle thin filament;sarcomere;Z disc;M band
• Molecular function: protein binding;structural constituent of muscle;kinase binding;identical protein binding;protein homodimerization activity;actin filament binding;muscle alpha-actinin binding