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NR_001566.3(TERC):n.380G>A AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 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:
RCV002933266.2

Allele description

NR_001566.3(TERC):n.380G>A

Gene:
TERC:telomerase RNA component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.2
Genomic location:
Preferred name:
NR_001566.3(TERC):n.380G>A
HGVS:
  • NC_000003.12:g.169764681C>T
  • NG_016363.1:g.5380G>A
  • NG_055509.2:g.93C>T
  • LRG_347t1:n.380G>A
  • LRG_347:g.5380G>A
  • NC_000003.11:g.169482469C>T
  • NR_001566.1:n.380G>A
  • NR_001566.2:n.380G>A
  • NR_001566.3:n.380G>A

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003266053Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 13, 2022) 		germlineclinical testing

PubMed (2)
[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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003266053.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

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. This variant is located within the BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 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.

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

Last Updated: Sep 1, 2024