NR_001566.1(TERC):n.83T>C AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 28, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002913025.2

Allele description [Variation Report for NR_001566.1(TERC):n.83T>C]

NR_001566.1(TERC):n.83T>C

Genes:

LOC110806306:telomerase RNA component (TERC) promoter [Gene]
TERC:telomerase RNA component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.2

Genomic location:

Preferred name:

NR_001566.1(TERC):n.83T>C

HGVS:

NC_000003.12:g.169764978A>G
NG_016363.1:g.5083T>C
NG_055509.1:g.87A>G
NG_055509.2:g.390A>G
LRG_347t1:n.83T>C
LRG_347:g.5083T>C
NC_000003.11:g.169482766A>G
NR_001566.1:n.83T>C

Molecular consequence:

NR_001566.1:n.83T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dyskeratosis congenita, autosomal dominant 1 (DKCA1)
Synonyms:: Dyskeratosis congenita autosomal dominant; Dyskeratosis congenita Scoggins type
Identifiers:: MONDO: MONDO:0007485; MedGen: C4551974; Orphanet: 1775; OMIM: 127550

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003249661	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 28, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 15082312, 21844345, 21931702, 26136524, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003249661

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 28, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Telomerase RNA structure and function: implications for dyskeratosis congenita.

Chen JL, Greider CW.

Trends Biochem Sci. 2004 Apr;29(4):183-92. Review. No abstract available.

PubMed [citation]

PMID:: 15082312

Architecture of human telomerase RNA.

Zhang Q, Kim NK, Feigon J.

Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20325-32. doi: 10.1073/pnas.1100279108. Epub 2011 Aug 15.

PubMed [citation]

PMID:: 21844345
PMCID:: PMC3251123

See all PubMed Citations (5)

Details of each submission

From Invitae, SCV003249661.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This variant is located within the template/pseudoknot domain of the TERC RNA component, which is required for RNA or RNP stability (PMID: 15082312, 21844345). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in a region of TERC in which a significant number of disease causing variants have been reported (PMID: 15082312, 21844345, 21931702). These observations suggest that this may be a clinically significant region. This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 26136524).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 26, 2024

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