MYH7B

myosin heavy chain 7B, the group of Myosin heavy chains, class II|MicroRNA protein coding host genes

Basic information

Region (hg38): 20:34955809-35002437

Links

ENSG00000078814 ∙ NCBI:57644 ∙ OMIM:609928 ∙ HGNC:15906 ∙ Uniprot:A7E2Y1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• left ventricular noncompaction (Supportive), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYH7B gene.

• not provided (484 variants)
• Inborn genetic diseases (113 variants)
• not specified (3 variants)
• MYH7B-related condition (2 variants)
• Flexion contracture (1 variants)
• Hypertrophic cardiomyopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYH7B 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			6	98	31	135
missense			263	19	16	298
nonsense			6			6
start loss						0
frameshift			15			15
inframe indel			11			11
splice donor/acceptor (+/-2bp)			5			5
splice region			10	15	4	29
non coding			6	39	13	58
Total	0	0	312	156	60

Variants in MYH7B

This is a list of pathogenic ClinVar variants found in the MYH7B region.

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

Position	Type	Phenotype	Significance	ClinVar
20-34975513-C-T			Likely benign (Apr 22, 2022)
20-34977634-G-T		not specified	Uncertain significance (May 01, 2023)
20-34977654-G-T		not specified	Uncertain significance (Jul 05, 2023)
20-34977658-C-T			Uncertain significance (Jan 25, 2024)
20-34977660-T-A			Uncertain significance (Jul 04, 2022)
20-34977663-C-T		MYH7B-related disorder	Likely benign (Dec 27, 2023)
20-34977669-C-T			Uncertain significance (Apr 01, 2022)
20-34977677-C-G			Likely benign (Dec 17, 2020)
20-34977677-C-T			Benign (Jan 31, 2024)
20-34977694-G-A			Likely benign (Oct 04, 2023)
20-34977935-G-A			Uncertain significance (Nov 13, 2023)
20-34977952-G-A		MYH7B-related disorder	Benign (Jan 29, 2024)
20-34977991-C-T		not specified	Uncertain significance (Aug 10, 2023)
20-34978014-T-A			Uncertain significance (Jan 11, 2023)
20-34978070-C-T			Uncertain significance (Jun 01, 2023)
20-34978071-G-A			Likely benign (Oct 03, 2023)
20-34978083-T-C			Likely benign (Aug 09, 2023)
20-34978087-C-A			Benign (Jan 28, 2024)
20-34978089-A-C			Likely benign (Aug 01, 2022)
20-34978092-G-A			Uncertain significance (Jan 29, 2024)
20-34978095-C-T			Likely benign (Nov 21, 2023)
20-34978108-CAG-C			Likely benign (Jul 21, 2023)
20-34979398-C-T			Uncertain significance (Apr 08, 2022)
20-34979416-G-A			Likely benign (Jan 02, 2024)
20-34979419-C-G			Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYH7B	protein_coding	protein_coding	ENST00000262873	43	27035

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.34e-46	0.00159	124998	0	750	125748	0.00299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.341	1289	1.26e+3	1.03	0.0000892	12757
Missense in Polyphen		577	569.48	1.0132		5848
Synonymous	-1.35	581	541	1.07	0.0000378	3937
Loss of Function	2.03	83	105	0.787	0.00000533	1218

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00638	0.00631
Ashkenazi Jewish	0.00	0.00
East Asian	0.00328	0.00321
Finnish	0.000979	0.000971
European (Non-Finnish)	0.00342	0.00335
Middle Eastern	0.00328	0.00321
South Asian	0.00310	0.00304
Other	0.00380	0.00375

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in muscle contraction. {ECO:0000269|PubMed:11919279}.
• Pathway: Tight junction - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.324

Intolerance Scores

• loftool: 0.110
• rvis_EVS: -0.89
• rvis_percentile_EVS: 10.17

Haploinsufficiency Scores

• pHI: 0.153
• hipred: Y
• hipred_score: 0.782
• ghis: 0.437

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.742

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myh7b

Gene ontology

• Cellular component: membrane;myosin filament;cardiac myofibril
• Molecular function: motor activity;protein binding;ATP binding;actin filament binding