TECRL

trans-2,3-enoyl-CoA reductase like, the group of Steroid 5-alpha reductase family

Basic information

Region (hg38): 4:64275257-64409468

Links

ENSG00000205678NCBI:253017OMIM:617242HGNC:27365Uniprot:Q5HYJ1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • catecholaminergic polymorphic ventricular tachycardia 3 (Moderate), mode of inheritance: AR
  • catecholaminergic polymorphic ventricular tachycardia (Supportive), mode of inheritance: AD
  • catecholaminergic polymorphic ventricular tachycardia 3 (Limited), mode of inheritance: AR
  • catecholaminergic polymorphic ventricular tachycardia 3 (Definitive), mode of inheritance: AR
  • catecholaminergic polymorphic ventricular tachycardia 3 (Strong), mode of inheritance: AR
  • catecholaminergic polymorphic ventricular tachycardia (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Ventricular tachycardia, catecholaminergic polymorphic, 3ARCardiovascularThe condition can include cardiac arrest and sudden cardiac death, and medical and surgical interventions (eg, with ICD) has been described as beneficialCardiovascular17666061; 27861123

ClinVar

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

  • Cardiovascular phenotype (8 variants)
  • Catecholaminergic polymorphic ventricular tachycardia 3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TECRL 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
41
clinvar
41
missense
1
clinvar
106
clinvar
5
clinvar
112
nonsense
4
clinvar
1
clinvar
1
clinvar
6
start loss
0
frameshift
4
clinvar
2
clinvar
6
inframe indel
1
clinvar
1
clinvar
2
splice donor/acceptor (+/-2bp)
1
clinvar
3
clinvar
4
splice region
12
3
1
16
non coding
1
clinvar
32
clinvar
33
clinvar
66
Total 9 8 109 78 33

Highest pathogenic variant AF is 0.0000132

Variants in TECRL

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

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

Position Type Phenotype Significance ClinVar
4-64279745-G-T Benign (Sep 04, 2018)1296724
4-64279754-AT-A Benign (Aug 20, 2019)1247451
4-64279780-T-C Likely benign (Mar 29, 2019)1180251
4-64280091-A-T Cardiovascular phenotype Uncertain significance (Aug 31, 2023)2626084
4-64280095-C-T Cardiovascular phenotype Uncertain significance (Jan 31, 2024)3175649
4-64280122-A-G Cardiovascular phenotype Uncertain significance (May 06, 2024)3325218
4-64280129-C-T Cardiovascular phenotype Likely benign (Jun 01, 2021)1772382
4-64280137-T-A Cardiovascular phenotype Uncertain significance (Nov 14, 2021)1769860
4-64280145-T-C Cardiovascular phenotype Uncertain significance (Mar 11, 2024)3232336
4-64280151-T-G Cardiovascular phenotype Uncertain significance (Jul 17, 2022)1735722
4-64280154-GC-G Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 3 Conflicting classifications of pathogenicity (Apr 13, 2023)1794643
4-64280158-A-T Cardiovascular phenotype Uncertain significance (Dec 19, 2019)1785785
4-64280160-A-G Cardiovascular phenotype Uncertain significance (Jul 18, 2021)1779342
4-64280164-A-G Cardiovascular phenotype Uncertain significance (Feb 09, 2024)3232335
4-64280166-A-G Cardiovascular phenotype Uncertain significance (Oct 10, 2023)3232355
4-64280166-A-T Cardiovascular phenotype Uncertain significance (Oct 04, 2022)1768825
4-64280179-T-A Cardiovascular phenotype Uncertain significance (Jun 16, 2020)1768414
4-64280237-T-G Benign (Sep 04, 2018)1225599
4-64280248-T-TAA Benign (Mar 29, 2019)1294827
4-64280982-A-G Benign (Sep 04, 2018)1221036
4-64280993-T-C Benign (Mar 29, 2019)1240736
4-64281049-G-A Cardiovascular phenotype Uncertain significance (Jan 13, 2021)1767410
4-64281065-T-G Cardiovascular phenotype Uncertain significance (May 03, 2024)3325209
4-64281077-A-T Cardiovascular phenotype Uncertain significance (Jan 19, 2023)1766445
4-64281085-A-G Cardiovascular phenotype Uncertain significance (May 30, 2022)1766204

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TECRLprotein_codingprotein_codingENST00000381210 12134212
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.20e-120.08251256890571257460.000227
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4151971811.090.000008762348
Missense in Polyphen6961.3551.1246837
Synonymous-0.5736660.31.090.00000279650
Loss of Function0.4481921.20.8950.00000103270

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003740.000372
Ashkenazi Jewish0.000.00
East Asian0.0004010.000381
Finnish0.00004620.0000462
European (Non-Finnish)0.0002610.000246
Middle Eastern0.0004010.000381
South Asian0.0004620.000457
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Metabolism of lipids;Fatty acyl-CoA biosynthesis;Metabolism;Fatty acid metabolism;Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Intolerance Scores

loftool
0.868
rvis_EVS
0.33
rvis_percentile_EVS
73.41

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.216
ghis
0.443

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0971

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tecrl
Phenotype

Gene ontology

Biological process
very long-chain fatty acid biosynthetic process;oxidation-reduction process
Cellular component
endoplasmic reticulum;integral component of membrane
Molecular function
oxidoreductase activity;oxidoreductase activity, acting on the CH-CH group of donors