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NM_198253.3(TERT):c.836C>T (p.Ala279Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 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:
RCV003102271.9

Allele description

NM_198253.3(TERT):c.836C>T (p.Ala279Val)

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.836C>T (p.Ala279Val)
HGVS:
  • NC_000005.10:g.1294050G>A
  • NG_009265.1:g.5998C>T
  • NM_001193376.3:c.836C>T
  • NM_003219.1:c.836C>T
  • NM_198253.3:c.836C>TMANE SELECT
  • NP_001180305.1:p.Ala279Val
  • NP_003210.1:p.Ala279Val
  • NP_937983.2:p.Ala279Val
  • NP_937983.2:p.Ala279Val
  • LRG_343t1:c.836C>T
  • LRG_343:g.5998C>T
  • LRG_343p1:p.Ala279Val
  • NC_000005.9:g.1294165G>A
  • NM_198253.2:c.836C>T
  • NR_149162.3:n.915C>T
  • NR_149163.3:n.915C>T
Protein change:
A279V
Molecular consequence:
  • NM_001193376.3:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003219.1:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.915C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita, autosomal dominant 2
Identifiers:
MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989
Name:
Idiopathic Pulmonary Fibrosis
Synonyms:
Idiopathic fibrosing alveolitis, chronic form
Identifiers:
MeSH: D054990; MedGen: C1800706

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002590596Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 29, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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, SCV002590596.3

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

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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 279 of the TERT protein (p.Ala279Val).

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

Last Updated: Sep 16, 2024