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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

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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

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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: Nov 10, 2024