MYH15

myosin heavy chain 15, the group of Myosin heavy chains, class II

Basic information

Region (hg38): 3:108380368-108529322

Links

ENSG00000144821 ∙ NCBI:22989 ∙ OMIM:609929 ∙ HGNC:31073 ∙ Uniprot:Q9Y2K3 ∙ 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 MYH15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH15 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				7	7	14
missense			119	13	6	138
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region				1	8	9
non coding			1		5	6
Total	0	0	120	21	19

Variants in MYH15

This is a list of pathogenic ClinVar variants found in the MYH15 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-108381559-C-A			Benign (Nov 09, 2018)
3-108383603-C-G		not specified	Uncertain significance (Dec 14, 2021)
3-108383654-C-G		not specified	Uncertain significance (Aug 19, 2023)
3-108383733-T-A			Likely benign (Oct 25, 2017)
3-108383733-T-C			Benign (Dec 31, 2019)
3-108383733-T-TA			Benign (Jan 11, 2018)
3-108383733-T-TAA			Benign (Jan 25, 2018)
3-108383737-A-AAC			Benign (Dec 31, 2019)
3-108384688-G-A		not specified	Likely benign (Aug 11, 2022)
3-108384695-C-T		not specified	Uncertain significance (Feb 26, 2024)
3-108384707-T-G		not specified	Uncertain significance (Dec 13, 2022)
3-108384714-T-G		not specified	Likely benign (Jun 29, 2023)
3-108384752-T-A		not specified	Uncertain significance (Dec 21, 2022)
3-108388995-C-T		not specified	Uncertain significance (Aug 17, 2021)
3-108389002-G-A			Benign (Dec 13, 2018)
3-108389031-C-G		not specified	Uncertain significance (Aug 10, 2023)
3-108389081-C-A			Benign (Dec 31, 2019)
3-108391778-G-C		not specified	Uncertain significance (Mar 02, 2023)
3-108391851-T-C		not specified	Uncertain significance (Sep 07, 2022)
3-108394035-A-G		not specified	Likely benign (Feb 28, 2024)
3-108394063-C-T		not specified	Uncertain significance (Oct 12, 2021)
3-108394084-C-T		not specified	Uncertain significance (Apr 07, 2022)
3-108394093-C-T		not specified	Uncertain significance (Aug 11, 2022)
3-108394107-C-T			Benign (Dec 31, 2019)
3-108394111-C-A		not specified	Uncertain significance (Jan 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH15	protein_coding	protein_coding	ENST00000273353	42	148954

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.55e-59	1.79e-7	125220	0	119	125339	0.000475

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0988	998	989	1.01	0.0000505	12904
Missense in Polyphen		290	291.19	0.9959		4407
Synonymous	1.31	330	362	0.912	0.0000181	3496
Loss of Function	1.00	96	107	0.896	0.00000545	1331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000805	0.000803
Ashkenazi Jewish	0.00	0.00
East Asian	0.00163	0.00158
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.000404	0.000396
Middle Eastern	0.00163	0.00158
South Asian	0.000528	0.000523
Other	0.000674	0.000656

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Muscle contraction. {ECO:0000250}.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• loftool: 0.196
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.6

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.470
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.109

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh15

Gene ontology

• Biological process: extraocular skeletal muscle development
• Cellular component: myofibril;myosin filament
• Molecular function: motor activity;calmodulin binding;ATP binding;actin filament binding