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NC_000003.12:g.169765054G>A AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 2021
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:
RCV003037486.4

Allele description [Variation Report for NC_000003.12:g.169765054G>A]

NC_000003.12:g.169765054G>A

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:
NC_000003.12:g.169765054G>A
HGVS:
  • NC_000003.12:g.169765054G>A
  • NG_016363.1:g.5007C>T
  • NG_055509.2:g.466G>A
  • LRG_347t1:n.7C>T
  • LRG_347:g.5007C>T
  • NC_000003.11:g.169482842G>A
  • NG_055509.1:g.163G>A
  • NR_001566.1:n.7C>T
  • NR_001566.2:n.7C>T
  • NR_001566.3:n.7C>T

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
SCV003318239Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 30, 2021) 		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

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 (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003318239.2

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

Description

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 at the 5’ end of the TERC RNA component (PMID: 15082312, 21844345). The functional significance of this region is not well understood. This variant has not been reported in the literature in individuals affected with TERC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: Oct 8, 2024