MYOF

myoferlin, the group of Ferlin family

Basic information

Region (hg38): 10:93306429-93482334

Previous symbols: [ "FER1L3" ]

Links

ENSG00000138119 ∙ NCBI:26509 ∙ OMIM:604603 ∙ HGNC:3656 ∙ Uniprot:Q9NZM1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• angioedema, hereditary, 7 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Angioedema, hereditary, 7	AD	Allergy/Immunology/Infectious	The condition can involved episodes of angioedema, and medical management may be beneficial	Allergy/Immunology/Infectious	32542751

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYOF 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			1	10	3	14
missense			170	11	6	187
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	2	1	4
non coding				1	1	2
Total	0	0	171	23	10

Variants in MYOF

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

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

Position	Type	Phenotype	Significance	ClinVar
10-93310040-C-T		not specified	Uncertain significance (Nov 14, 2023)
10-93310047-G-T		not specified	Uncertain significance (Oct 14, 2023)
10-93310108-A-G			Uncertain significance (Feb 01, 2024)
10-93310526-CCT-C		MYOF-related disorder	Likely benign (Jul 03, 2024)
10-93310543-T-C			Uncertain significance (Jul 01, 2023)
10-93310566-T-C			Uncertain significance (Apr 01, 2021)
10-93310568-C-T		not specified	Uncertain significance (Aug 01, 2024)
10-93310574-G-A		not specified	Uncertain significance (Oct 10, 2023)
10-93310574-G-T		MYOF-related disorder	Likely benign (Aug 06, 2019)
10-93310598-C-T		not specified	Uncertain significance (Sep 13, 2023)
10-93310601-C-T		not specified	Uncertain significance (Jan 03, 2024)
10-93310611-G-A		MYOF-related disorder	Likely benign (Sep 18, 2019)
10-93310612-T-C		not specified	Uncertain significance (Dec 19, 2023)
10-93313030-C-T		not specified	Uncertain significance (Dec 03, 2024)
10-93313031-G-A		not specified	Uncertain significance (Sep 24, 2024)
10-93313049-C-T		not specified	Uncertain significance (May 09, 2022)
10-93313094-A-T		not specified	Uncertain significance (Aug 19, 2024)
10-93313114-G-T		not specified	Uncertain significance (Feb 27, 2023)
10-93313124-C-T		not specified	Uncertain significance (Feb 13, 2024)
10-93313135-G-A		not specified	Uncertain significance (May 04, 2022)
10-93313142-T-A			Uncertain significance (Jul 01, 2023)
10-93313149-T-C			Benign (Mar 23, 2020)
10-93313171-G-A		not specified	Uncertain significance (Feb 10, 2022)
10-93313190-G-A		not specified • MYOF-related disorder	Uncertain significance (Dec 14, 2022)
10-93316745-G-T			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYOF	protein_coding	protein_coding	ENST00000359263	54	175889

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.48e-54	0.00217	124357	2	690	125049	0.00277

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.112	1156	1.17e+3	0.991	0.0000666	13537
Missense in Polyphen		439	456.57	0.96152		5398
Synonymous	0.279	430	437	0.983	0.0000265	3880
Loss of Function	2.49	101	132	0.766	0.00000743	1448

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00676	0.00674
Ashkenazi Jewish	0.00457	0.00458
East Asian	0.00274	0.00270
Finnish	0.00112	0.00111
European (Non-Finnish)	0.00224	0.00223
Middle Eastern	0.00274	0.00270
South Asian	0.00485	0.00478
Other	0.00198	0.00198

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity). {ECO:0000250}.
• Pathway: Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Hepatitis C and Hepatocellular Carcinoma;Signaling events mediated by VEGFR1 and VEGFR2 (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.0903
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.68

Haploinsufficiency Scores

• pHI: 0.195
• hipred: N
• hipred_score: 0.492
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.517

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myof
• Phenotype: muscle phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: plasma membrane repair;glycerol metabolic process;muscle contraction;myoblast fusion;blood circulation;regulation of vascular endothelial growth factor receptor signaling pathway;T-tubule organization;cellular response to heat;muscle fiber development
• Cellular component: nuclear envelope;plasma membrane;caveola;integral component of membrane;cytoplasmic vesicle membrane;cytoplasmic vesicle;nuclear membrane;intracellular membrane-bounded organelle;extracellular exosome
• Molecular function: protein binding;phospholipid binding