MYO5C

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

Basic information

Region (hg38): 15:52192322-52295804

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.

• not_specified (232 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. These statistics are base on transcript: NM_000018728.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			223	12	1	236
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	223	13	1

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