TERC

telomerase RNA component

Basic information

Links

ENSG00000270141 ∙ NCBI:7012 ∙ OMIM:602322 ∙ HGNC:11727 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• acute myeloid leukemia (Strong), mode of inheritance: AD
• dyskeratosis congenita, autosomal dominant 1 (Moderate), mode of inheritance: AD
• dyskeratosis congenita, autosomal dominant 1 (Definitive), mode of inheritance: AD
• dyskeratosis congenita, autosomal dominant 1 (Strong), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Dyskeratosis congenita, autosomal dominant 1; Aplastic anemia; Pulmonary fibrosis and/or bone marrow failure, telomere-related 2	AD	Allergy/Immunology/Infectious; Hematologic; Oncologic; Pulmonary	In dyskeratosis congenita, the presentation many not always be classic, and individuals are at high risk for hematologic anomalies (including bone marrow failure) and malignancy, and surveillance and prompt diagnosis and treatment may be beneficial; In Aplastic anemia, surveillance and prompt treatment of aplastic anemia and bone marrow failure may reduce morbidity; For treatment related to pulmonary fibrosis, immunotherapy may be beneficial, though lung transplantation may be indicated in individuals with severe/refractory disease	Allergy/Immunology/Infectious; Dermatologic; Endocrine; Gastrointestinal; Hematologic; Neurologic; Oncologic; Pulmonary	11574891; 12090986; 14630445; 17392301; 18753630; 19760749; 21436073; 22341970; 20301779; 23348503
The presence of variants has also been reported as increasing risk of malignancy, including melanoma

ClinVar

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

• Dyskeratosis congenita, autosomal dominant 1 (279 variants)
• not provided (17 variants)
• Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 (15 variants)
• Aplastic anemia (12 variants)
• Pulmonary fibrosis (10 variants)
• not specified (8 variants)
• Dyskeratosis congenita, autosomal dominant 1;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 (4 variants)
• TERC-related condition (3 variants)
• Dyskeratosis congenita (1 variants)
• Telomere syndrome (1 variants)
• Interstitial lung disease 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TERC 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)	1					1
splice region						0
non coding	30	13	259	2	1	305
Total	31	13	259	2	1

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Gastric cancer - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Lung fibrosis;overview of telomerase rna component gene hterc transcriptional regulation (Consensus)

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.914