NC_000003.12:g.169764700_169764702delinsCTT AND Dyskeratosis congenita, autosomal dominant 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 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:: RCV003088942.3

Allele description [Variation Report for NC_000003.12:g.169764700_169764702delinsCTT]

NC_000003.12:g.169764700_169764702delinsCTT

Genes:

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

Variant type:

Indel

Cytogenetic location:

3q26.2

Genomic location:

Preferred name:

NC_000003.12:g.169764700_169764702delinsCTT

HGVS:

NC_000003.12:g.169764700_169764702delinsCTT
NG_016363.1:g.5359_5361delinsAAG
NG_055509.2:g.112_114delinsCTT
LRG_347t1:n.359_361delinsAAG
LRG_347:g.5359_5361delinsAAG
NC_000003.11:g.169482488_169482490delinsCTT
NR_001566.1:n.359_361delinsAAG
NR_001566.2:n.359_361delTCAinsAAG
NR_001566.3:n.359_361delTCAinsAAG

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
SCV003486610	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 23, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21844345, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003486610

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 23, 2022)

germline

clinical testing

PubMed (2)
[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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV003486610.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant is located within the BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 21844345). This variant has not been reported in the literature in individuals affected with TERC-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product. 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.

#	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: Oct 8, 2024

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