MYO1F

myosin IF, the group of Myosin heavy chains, class I

Basic information

Region (hg38): 19:8517463-8577442

Links

ENSG00000142347 ∙ NCBI:4542 ∙ OMIM:601480 ∙ HGNC:7600 ∙ Uniprot:O00160 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• nonsyndromic genetic hearing loss (Disputed Evidence), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYO1F gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1F 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				20	7	27
missense			103	14	4	121
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				4	5	9
non coding				22	78	100
Total	0	0	104	56	89

Variants in MYO1F

This is a list of pathogenic ClinVar variants found in the MYO1F region.

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

Position	Type	Phenotype	Significance	ClinVar
19-8521342-C-G			Benign (May 13, 2021)
19-8521489-T-C			Likely benign (Jun 16, 2018)
19-8521494-G-A			Likely benign (Sep 23, 2018)
19-8521533-T-G		not specified	Uncertain significance (Jun 13, 2022)
19-8521543-G-A			Likely benign (Nov 14, 2018)
19-8521571-C-T		not specified	Uncertain significance (Aug 12, 2024)
19-8521597-C-T		MYO1F-related disorder	Likely benign (Feb 26, 2020)
19-8521626-G-A			Likely benign (May 22, 2021)
19-8522168-G-A			Benign (May 13, 2021)
19-8522311-C-T			Benign (Sep 29, 2018)
19-8522317-C-T			Benign (Jun 21, 2018)
19-8522321-C-T			Likely benign (Sep 01, 2018)
19-8522407-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-8522409-T-G		not specified	Conflicting classifications of pathogenicity (Feb 13, 2025)
19-8522422-C-T		not specified	Uncertain significance (Jun 29, 2022)
19-8522457-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-8522465-G-T			Benign (Dec 31, 2019)
19-8522469-C-G		not specified	Uncertain significance (Nov 20, 2024)
19-8522488-G-A		not specified	Uncertain significance (Nov 24, 2024)
19-8522517-C-T		MYO1F-related disorder	Likely benign (Oct 18, 2019)
19-8522527-C-T		MYO1F-related disorder	Likely benign (Jul 16, 2018)
19-8522528-G-T		not specified	Uncertain significance (Oct 26, 2022)
19-8522532-C-T		not specified	Conflicting classifications of pathogenicity (Jan 16, 2024)
19-8522599-C-G			Likely benign (Jun 22, 2018)
19-8522629-C-T		MYO1F-related disorder	Likely benign (Sep 30, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1F	protein_coding	protein_coding	ENST00000338257	28	56788

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.37e-7	1.00	125247	0	69	125316	0.000275

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	582	714	0.815	0.0000502	7206
Missense in Polyphen		154	235.27	0.65458		2421
Synonymous	-0.122	297	294	1.01	0.0000224	2121
Loss of Function	4.84	24	66.6	0.360	0.00000404	671

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000316	0.000311
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000164
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000447	0.000441
Middle Eastern	0.000167	0.000164
South Asian	0.000197	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.201

Intolerance Scores

• loftool: 0.114
• rvis_EVS: -1.83
• rvis_percentile_EVS: 2.12

Haploinsufficiency Scores

• pHI: 0.371
• hipred: Y
• hipred_score: 0.637
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.939

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo1f
• Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: unconventional myosin complex
• Molecular function: motor activity;actin binding;calmodulin binding;ATP binding