MYO5C

myosin VC, the group of MicroRNA protein coding host genes|Myosin heavy chains, class V

Basic information

Region (hg38): 15:52192321-52295804

Links

ENSG00000128833 ∙ NCBI:55930 ∙ OMIM:610022 ∙ HGNC:7604 ∙ Uniprot:Q9NQX4 ∙ 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 MYO5C gene.

• Inborn genetic diseases (67 variants)
• not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO5C 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		1
missense			64	7	1	72
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	64	8	1

Variants in MYO5C

This is a list of pathogenic ClinVar variants found in the MYO5C region.

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

Position	Type	Phenotype	Significance	ClinVar
15-52193943-T-C		not specified	Uncertain significance (Jul 25, 2023)
15-52193970-A-G		not specified	Uncertain significance (Jun 07, 2023)
15-52194038-C-T		not specified	Uncertain significance (Dec 14, 2021)
15-52195385-T-G		not specified	Uncertain significance (May 17, 2023)
15-52196346-T-C		not specified	Uncertain significance (Dec 27, 2023)
15-52204935-C-G		not specified	Uncertain significance (Aug 30, 2022)
15-52204966-C-A		not specified	Uncertain significance (Oct 22, 2021)
15-52204999-C-G		not specified	Uncertain significance (Feb 14, 2024)
15-52205052-C-T		not specified	Uncertain significance (Apr 07, 2022)
15-52205132-T-G		not specified	Uncertain significance (Nov 03, 2023)
15-52205144-G-A		not specified	Uncertain significance (Oct 29, 2021)
15-52205900-A-G		not specified	Uncertain significance (Mar 07, 2024)
15-52205912-C-G		not specified	Uncertain significance (Jan 11, 2023)
15-52208562-C-T		not specified	Uncertain significance (Aug 11, 2022)
15-52208576-A-G		not specified	Uncertain significance (May 04, 2022)
15-52208627-A-G		not specified	Uncertain significance (Oct 12, 2021)
15-52211753-T-C		not specified	Uncertain significance (May 03, 2023)
15-52211766-C-G		not specified	Uncertain significance (Jun 01, 2022)
15-52211807-C-T		not specified	Uncertain significance (Oct 03, 2022)
15-52211813-G-A		not specified	Uncertain significance (Dec 17, 2023)
15-52211872-C-T		not specified	Uncertain significance (Sep 27, 2021)
15-52211873-G-T		not specified	Uncertain significance (Oct 29, 2021)
15-52213271-G-A		not specified	Likely benign (Jun 23, 2021)
15-52214656-A-G		not specified	Uncertain significance (Mar 20, 2023)
15-52218538-C-T		not specified	Uncertain significance (Jun 23, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO5C	protein_coding	protein_coding	ENST00000261839	41	103477

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.81e-37	0.726	124601	0	257	124858	0.00103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.482	915	957	0.956	0.0000540	11619
Missense in Polyphen		353	389.15	0.9071		4642
Synonymous	0.714	340	357	0.952	0.0000219	3097
Loss of Function	2.91	74	106	0.696	0.00000570	1229

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00358	0.00357
Ashkenazi Jewish	0.000602	0.000497
East Asian	0.000897	0.000889
Finnish	0.000140	0.000139
European (Non-Finnish)	0.000959	0.000953
Middle Eastern	0.000897	0.000889
South Asian	0.00120	0.00114
Other	0.000842	0.000823

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.

Recessive Scores

• pRec: 0.249

Intolerance Scores

• loftool: 0.198
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.39

Haploinsufficiency Scores

• pHI: 0.566
• hipred: N
• hipred_score: 0.427
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.717

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myo5c

Gene ontology

• Cellular component: myosin complex;extracellular exosome
• Molecular function: motor activity;calmodulin binding;ATP binding;actin filament binding