NM_198253.3(TERT):c.430G>A (p.Val144Met) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000256024.1

Allele description

NM_198253.3(TERT):c.430G>A (p.Val144Met)

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.430G>A (p.Val144Met)

HGVS:

NC_000005.10:g.1294456C>T
NG_009265.1:g.5592G>A
NM_001193376.3:c.430G>A
NM_198253.3:c.430G>AMANE SELECT
NP_001180305.1:p.Val144Met
NP_937983.2:p.Val144Met
NP_937983.2:p.Val144Met
LRG_343t1:c.430G>A
LRG_343:g.5592G>A
LRG_343p1:p.Val144Met
NC_000005.9:g.1294571C>T
NM_198253.2:c.430G>A
NR_149162.3:n.509G>A
NR_149163.3:n.509G>A

Protein change:

V144M

Links:

dbSNP: rs199422291

NCBI 1000 Genomes Browser:

rs199422291

Molecular consequence:

NM_001193376.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198253.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_149162.3:n.509G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_149163.3:n.509G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322340	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 18, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322340

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 18, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000322340.7

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

Description

The V144M variant in the TERT gene has been published previously in association with familial pulmonary fibrosis and lung disease (Diaz et al., 2010; Tsakiri et al., 2007). The variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position within the GQ motif of the TEN domain that is not conserved. However, functional studies have shown that while V144M does not affect activity of the TERT protein, it prevents localization of the protein to telomeres, resulting in telomere shortening (Zhong et al., 2012).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2022

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