VCL

This page contains an overview of the genetic variation in the VCL 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:

VCL gene and transcript details

Gene Name
vinculin

Gene Links
Ensembl: ENSG00000035403 - Locus Reference Genomic: LRG_383

Genomic Location
Chromosome 10 : 75,757,966 - 75,877,927 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (3402 bases)	Protein (1134 aa)
	ENST00000211998	ENSP00000211998
	LRG_383t1	LRG_383p1
	NM_014000.2
		P18206

Summary of VCL in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.02203	0.01016	1.19%
Truncating	0.00678	0.00032	0.65%
Non-Truncating	0.01525	0.00984	0.54%

Based on an analysis of rare variants (MAF<0.0001) in VCL detected in a cohort of 590 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

HCM - Hypertrophic Cardiomyopathy - explore in detail

Based on a detailed analysis of the role of VCL in HCM (see study in the European Heart Journal), it is classified as:
No Evidence.

VCL variants in ExAC

Details of the protein-altering VCL 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	344	0.00600
Truncating	11	0.00016
Missense	276	0.00485
Inframe	4	0.00007
Splice Site	53	0.00092

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