TECRL
Basic information
Region (hg38): 4:64275257-64409468
Links
Phenotypes
GenCC
Source:
- 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:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ventricular tachycardia, catecholaminergic polymorphic, 3 | AR | Cardiovascular | The condition can include cardiac arrest and sudden cardiac death, and medical and surgical interventions (eg, with ICD) has been described as beneficial | Cardiovascular | 17666061; 27861123 |
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | 41 | ||||
missense | 106 | 112 | ||||
nonsense | 6 | |||||
start loss | 0 | |||||
frameshift | 6 | |||||
inframe indel | 2 | |||||
splice donor/acceptor (+/-2bp) | 4 | |||||
splice region | 12 | 3 | 1 | 16 | ||
non coding | 32 | 33 | 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) | |||
4-64279754-AT-A | Benign (Aug 20, 2019) | |||
4-64279780-T-C | Likely benign (Mar 29, 2019) | |||
4-64280091-A-T | Cardiovascular phenotype | Uncertain significance (Aug 31, 2023) | ||
4-64280095-C-T | Cardiovascular phenotype | Uncertain significance (Jan 31, 2024) | ||
4-64280122-A-G | Cardiovascular phenotype | Uncertain significance (May 06, 2024) | ||
4-64280129-C-T | Cardiovascular phenotype | Likely benign (Jun 01, 2021) | ||
4-64280137-T-A | Cardiovascular phenotype | Uncertain significance (Nov 14, 2021) | ||
4-64280145-T-C | Cardiovascular phenotype | Uncertain significance (Mar 11, 2024) | ||
4-64280151-T-G | Cardiovascular phenotype | Uncertain significance (Jul 17, 2022) | ||
4-64280154-GC-G | Cardiovascular phenotype • Catecholaminergic polymorphic ventricular tachycardia 3 | Conflicting classifications of pathogenicity (Apr 13, 2023) | ||
4-64280158-A-T | Cardiovascular phenotype | Uncertain significance (Dec 19, 2019) | ||
4-64280160-A-G | Cardiovascular phenotype | Uncertain significance (Jul 18, 2021) | ||
4-64280164-A-G | Cardiovascular phenotype | Uncertain significance (Feb 09, 2024) | ||
4-64280166-A-G | Cardiovascular phenotype | Uncertain significance (Oct 10, 2023) | ||
4-64280166-A-T | Cardiovascular phenotype | Uncertain significance (Oct 04, 2022) | ||
4-64280179-T-A | Cardiovascular phenotype | Uncertain significance (Jun 16, 2020) | ||
4-64280237-T-G | Benign (Sep 04, 2018) | |||
4-64280248-T-TAA | Benign (Mar 29, 2019) | |||
4-64280982-A-G | Benign (Sep 04, 2018) | |||
4-64280993-T-C | Benign (Mar 29, 2019) | |||
4-64281049-G-A | Cardiovascular phenotype | Uncertain significance (Jan 13, 2021) | ||
4-64281065-T-G | Cardiovascular phenotype | Uncertain significance (May 03, 2024) | ||
4-64281077-A-T | Cardiovascular phenotype | Uncertain significance (Jan 19, 2023) | ||
4-64281085-A-G | Cardiovascular phenotype | Uncertain significance (May 30, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TECRL | protein_coding | protein_coding | ENST00000381210 | 12 | 134212 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.20e-12 | 0.0825 | 125689 | 0 | 57 | 125746 | 0.000227 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.415 | 197 | 181 | 1.09 | 0.00000876 | 2348 |
Missense in Polyphen | 69 | 61.355 | 1.1246 | 837 | ||
Synonymous | -0.573 | 66 | 60.3 | 1.09 | 0.00000279 | 650 |
Loss of Function | 0.448 | 19 | 21.2 | 0.895 | 0.00000103 | 270 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000374 | 0.000372 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000401 | 0.000381 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000261 | 0.000246 |
Middle Eastern | 0.000401 | 0.000381 |
South Asian | 0.000462 | 0.000457 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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