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NM_198253.3(TERT):c.1304T>A (p.Val435Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2023
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:
RCV002291685.10

Allele description [Variation Report for NM_198253.3(TERT):c.1304T>A (p.Val435Glu)]

NM_198253.3(TERT):c.1304T>A (p.Val435Glu)

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.1304T>A (p.Val435Glu)
HGVS:
  • NC_000005.10:g.1293582A>T
  • NG_009265.1:g.6466T>A
  • NM_001193376.3:c.1304T>A
  • NM_198253.3:c.1304T>AMANE SELECT
  • NP_001180305.1:p.Val435Glu
  • NP_937983.2:p.Val435Glu
  • NP_937983.2:p.Val435Glu
  • LRG_343t1:c.1304T>A
  • LRG_343:g.6466T>A
  • LRG_343p1:p.Val435Glu
  • NC_000005.9:g.1293697A>T
  • NM_198253.2:c.1304T>A
  • NR_149162.3:n.1383T>A
  • NR_149163.3:n.1383T>A
Protein change:
V435E
Links:
dbSNP: rs1561213530
NCBI 1000 Genomes Browser:
rs1561213530
Molecular consequence:
  • NM_001193376.3:c.1304T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1304T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.1383T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1383T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002584225GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 14, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002584225.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies demonstrate in vitro telomerase activity and processivity similar to wildtype (Tomlinson et al., 2021); Identified in an individual with myelodysplastic syndrome, but testing was unable to determine whether the variant was a somatic alteration or present in the patient's germline (Tomlinson et al., 2021); This variant is associated with the following publications: (PMID: 32313107)

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

Last Updated: Jul 23, 2024