CAV3

This page contains an overview of the genetic variation in the CAV3 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:

CAV3 gene and transcript details

Gene Name
caveolin 3

Gene Links
Ensembl: ENSG00000182533 - Locus Reference Genomic: LRG_329

Genomic Location
Chromosome 3 : 8,775,563 - 8,787,553 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (453 bases)	Protein (151 aa)
	ENST00000343849	ENSP00000341940
	LRG_329t1	LRG_329p1
	NM_033337.2
		P56539

Summary of CAV3 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	ExAC Freq	Case Excess
All	0.00138	-0.14%
Truncating	0.00014	-0.01%
Non-Truncating	0.00124	-0.12%

Based on an analysis of rare variants (MAF<0.0001) in CAV3 detected in a cohort of 121 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 CAV3 in HCM (see study in the European Heart Journal), it is classified as:
Functional data only (no genetic evidence).

CAV3 variants in ExAC

Details of the protein-altering CAV3 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	49	0.00071
Truncating	4	0.00007
Missense	43	0.00062
Inframe	0	0.00000
Splice Site	2	0.00002

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