TCAP

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

TCAP gene and transcript details

Gene Name
titin-cap (telethonin)

Gene Links
Ensembl: ENSG00000173991 - Locus Reference Genomic: LRG_210

Genomic Location
Chromosome 17 : 37,821,613 - 37,822,362 (forward strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (501 bases)	Protein (167 aa)
	ENST00000309889	ENSP00000312624
	LRG_210t1	LRG_210p1
	NM_003673.3
		O15273

Summary of TCAP in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.01186	0.00242	0.94%
Truncating	0.00000	0.00024	-0.02%
Non-Truncating	0.01186	0.00218	0.97%

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

TCAP variants in ExAC

Details of the protein-altering TCAP 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	72	0.00123
Truncating	5	0.00012
Missense	64	0.00108
Inframe	2	0.00001
Splice Site	1	0.00002

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