MYBPC3

This page contains an overview of the genetic variation in the MYBPC3 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

MYBPC3 gene and transcript details

Gene Name
myosin binding protein C, cardiac

Gene Links
Ensembl: ENSG00000134571 - Locus Reference Genomic: LRG_386

Genomic Location
Chromosome 11 : 47,353,422 - 47,374,198 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (3822 bases)	Protein (1274 aa)
	ENST00000545968	ENSP00000442795
	LRG_386t1	LRG_386p1
	NM_000256.3
		Q14896

Summary of MYBPC3 in Cardiomyopathies

HCM - Hypertrophic Cardiomyopathy - explore in detail

VarType	HCM Freq	ExAC Freq	Case Excess
All	0.19032	0.01970	17.06%
Truncating	0.09160	0.00086	9.07%
Non-Truncating	0.09872	0.01884	7.99%

Based on an analysis of rare variants (MAF<0.0001) in MYBPC3 detected in a cohort of 6179 HCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.02498	0.01970	0.53%
Truncating	0.00000	0.00086	-0.09%
Non-Truncating	0.02498	0.01884	0.61%

Based on an analysis of rare variants (MAF<0.0001) in MYBPC3 detected in a cohort of 1161 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

MYBPC3 variants in ExAC

Details of the protein-altering MYBPC3 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	576	0.01144
Truncating	28	0.00043
Missense	454	0.00931
Inframe	9	0.00011
Splice Site	85	0.00158

Rare variants are defined as having a mean allelic frequency of less than 0.0001.