NM_198253.3(TERT):c.2158A>G (p.Ile720Val) AND Dyskeratosis congenita

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 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:: RCV004559550.1

Allele description [Variation Report for NM_198253.3(TERT):c.2158A>G (p.Ile720Val)]

NM_198253.3(TERT):c.2158A>G (p.Ile720Val)

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.2158A>G (p.Ile720Val)

HGVS:

NC_000005.10:g.1278769T>C
NG_009265.1:g.21279A>G
NM_001193376.3:c.2158A>G
NM_003219.1:c.2158A>G
NM_198253.3:c.2158A>GMANE SELECT
NP_001180305.1:p.Ile720Val
NP_003210.1:p.Ile720Val
NP_937983.2:p.Ile720Val
NP_937983.2:p.Ile720Val
LRG_343t1:c.2158A>G
LRG_343:g.21279A>G
LRG_343p1:p.Ile720Val
NC_000005.9:g.1278884T>C
NM_198253.2:c.2158A>G
NR_149162.3:n.2237A>G

Protein change:

I720V

Molecular consequence:

NM_001193376.3:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003219.1:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.2158A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.2237A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Dyskeratosis congenita
Identifiers:: MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002724634	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002724634

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 7, 2022)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002724634.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.I720V variant (also known as c.2158A>G), located in coding exon 6 of the TERT gene, results from an A to G substitution at nucleotide position 2158. The isoleucine at codon 720 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Nov 24, 2024

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