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NM_198253.3(TERT):c.180G>A (p.Trp60Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2018
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:
RCV000688274.2

Allele description

NM_198253.3(TERT):c.180G>A (p.Trp60Ter)

Genes:
LOC110806263:TERT 5' regulatory region [Gene]
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)
HGVS:
  • NC_000005.10:g.1294810C>T
  • NG_009265.1:g.5238G>A
  • NG_055467.1:g.283C>T
  • NM_001193376.3:c.180G>A
  • NM_198253.3:c.180G>AMANE SELECT
  • NP_001180305.1:p.Trp60Ter
  • NP_937983.2:p.Trp60Ter
  • NP_937983.2:p.Trp60Ter
  • LRG_343t1:c.180G>A
  • LRG_343:g.5238G>A
  • LRG_343p1:p.Trp60Ter
  • NC_000005.9:g.1294925C>T
  • NM_198253.2:c.180G>A
  • NR_149162.3:n.259G>A
  • NR_149163.3:n.259G>A
Protein change:
W60*
Links:
dbSNP: rs1554043139
NCBI 1000 Genomes Browser:
rs1554043139
Molecular consequence:
  • NR_149162.3:n.259G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.259G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001193376.3:c.180G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198253.3:c.180G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Interstitial lung disease 2 (ILD2)
Synonyms:
Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia
Identifiers:
MONDO: MONDO:0800029; MedGen: C5561926; Orphanet: 2032; Orphanet: 79126; OMIM: 178500
Name:
Dyskeratosis congenita, autosomal dominant 2
Identifiers:
MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000815879Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 10, 2018) 		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

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW.

Proc Natl Acad Sci U S A. 2005 Nov 1;102(44):15960-4. Epub 2005 Oct 24.

PubMed [citation]
PMID:
16247010
PMCID:
PMC1276104

Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK.

Proc Natl Acad Sci U S A. 2007 May 1;104(18):7552-7. Epub 2007 Apr 25.

PubMed [citation]
PMID:
17460043
PMCID:
PMC1855917
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000815879.2

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

Description

This sequence change creates a premature translational stop signal (p.Trp60*) in the TERT gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TERT-related disease. Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Dec 17, 2022