U.S. flag

An official website of the United States government

NR_001566.1(TERC):n.327TC[2] AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 23, 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:
RCV003875844.1

Allele description [Variation Report for NR_001566.1(TERC):n.327TC[2]]

NR_001566.1(TERC):n.327TC[2]

Genes:
LOC110806306:telomerase RNA component (TERC) promoter [Gene]
TERC:telomerase RNA component [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
3q26.2
Genomic location:
Preferred name:
NR_001566.1(TERC):n.327TC[2]
HGVS:
  • NC_000003.12:g.169764729GA[2]
  • NG_016363.1:g.5327TC[2]
  • NG_055509.2:g.141GA[2]
  • LRG_347t1:n.327TC[2]
  • LRG_347:g.5327TC[2]
  • NC_000003.11:g.169482517GA[2]
  • NC_000003.11:g.169482517_169482518del
  • NR_001566.1:n.327TC[2]
Molecular consequence:
  • NR_001566.1:n.327TC[2] - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004677219Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 23, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Secondary structure of vertebrate telomerase RNA.

Chen JL, Blasco MA, Greider CW.

Cell. 2000 Mar 3;100(5):503-14.

PubMed [citation]
PMID:
10721988

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 (3)

Details of each submission

From Invitae, SCV004677219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant is located within the hypervariable region that is not conserved in the TERC RNA component (PMID: 10721988, 21844345). The functional significance of this region is not well understood. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TERC-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024