TERC

Chr 3AD

telomerase RNA component

Also known as: DKCA1, PFBMFT2, SCARNA19, TER, TR, TRC3, hTR

NCBI Gene: 7012 ENSG00000270141 OMIM: 602322

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component, encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismAD2 OMIM phenotypes

Clinical Summary— TERC

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Gene-Disease Validity (ClinGen)

dyskeratosis congenita, autosomal dominant 1 · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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ClinVar Variants

50 unique Pathogenic / Likely Pathogenic· 355 VUS of 417 total submissions

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

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GeneReview available — TERC

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

417 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic32

Likely Pathogenic18

VUS355

Likely Benign5

Benign1

Conflicting6

Pathogenic

Likely Pathogenic

355

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	32	0	32
Likely Pathogenic	0	0	18	0	18
VUS	0	0	355	0	355
Likely Benign	0	0	5	0	5
Benign	0	0	1	0	1
Conflicting	—				6
Total	0	0	411	0	417

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

21 pathogenic / likely-pathogenic (of 25) ClinVar copy-number / structural variants overlap TERC — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →