MYBPHL

myosin binding protein H like, the group of I-set domain containing|Myosin binding proteins

Basic information

Region (hg38): 1:109292364-109307011

Links

ENSG00000221986 ∙ NCBI:343263 ∙ OMIM:619807 ∙ HGNC:30434 ∙ Uniprot:A2RUH7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• familial dilated cardiomyopathy (Limited), mode of inheritance: Unknown

ClinVar

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

• Inborn genetic diseases (23 variants)
• not provided (22 variants)
• Brugada syndrome (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 MYBPHL 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					2	2
missense			23		1	24
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					17	17
Total	0	0	24	0	20

Variants in MYBPHL

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

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

Position	Type	Phenotype	Significance	ClinVar
1-109294170-G-C			Benign (May 13, 2021)
1-109294213-A-G			Benign (May 13, 2021)
1-109294220-C-G			Benign (May 13, 2021)
1-109294929-A-G			Benign (May 13, 2021)
1-109295086-G-A			Benign (May 21, 2021)
1-109295125-C-T		not specified	Uncertain significance (Jul 09, 2021)
1-109295161-G-A		not specified	Uncertain significance (Aug 30, 2021)
1-109295188-A-G		not specified	Uncertain significance (Aug 02, 2021)
1-109295219-A-G		not specified	Uncertain significance (Feb 28, 2023)
1-109295494-C-T			Benign (May 13, 2021)
1-109296211-T-C			Benign (May 13, 2021)
1-109296296-C-T			Benign (May 04, 2021)
1-109296323-C-T		not specified	Uncertain significance (Feb 11, 2022)
1-109296338-G-A		Brugada syndrome	Uncertain significance (Mar 06, 2023)
1-109296441-AT-A			Benign (May 13, 2021)
1-109296441-A-AT			Benign (May 13, 2021)
1-109296770-A-G			Benign (May 13, 2021)
1-109296778-C-T			Benign (May 04, 2021)
1-109296791-T-C		not specified	Uncertain significance (Jan 03, 2024)
1-109296801-C-T		not specified	Uncertain significance (Jan 31, 2023)
1-109296809-G-A		not specified	Uncertain significance (Dec 06, 2021)
1-109296811-A-G			Benign (May 04, 2021)
1-109296837-C-T		not specified	Uncertain significance (Feb 21, 2024)
1-109296849-C-T		not specified	Uncertain significance (Oct 12, 2021)
1-109296888-G-T		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYBPHL	protein_coding	protein_coding	ENST00000357155	8	14677

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00369	0.988	125365	0	383	125748	0.00152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.404	205	222	0.924	0.0000135	2271
Missense in Polyphen		54	70.093	0.7704		789
Synonymous	-0.417	95	90.0	1.06	0.00000559	743
Loss of Function	2.32	7	17.5	0.401	8.29e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000572	0.000572
Ashkenazi Jewish	0.00169	0.00169
East Asian	0.000163	0.000163
Finnish	0.00314	0.00315
European (Non-Finnish)	0.00212	0.00212
Middle Eastern	0.000163	0.000163
South Asian	0.00101	0.00101
Other	0.00163	0.00163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.670
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.83

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.285

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.172

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mybphl
• Phenotype: muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); endocrine/exocrine gland phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; skeleton phenotype; renal/urinary system phenotype; embryo phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function;protein binding