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NM_198253.3(TERT):c.1951-205G>A AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 24, 2018
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:
RCV001668373.9

Allele description [Variation Report for NM_198253.3(TERT):c.1951-205G>A]

NM_198253.3(TERT):c.1951-205G>A

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.1951-205G>A
HGVS:
  • NC_000005.10:g.1279675C>T
  • NG_009265.1:g.20373G>A
  • NM_001193376.3:c.1951-205G>A
  • NM_198253.3:c.1951-205G>AMANE SELECT
  • LRG_343t1:c.1951-205G>A
  • LRG_343:g.20373G>A
  • NC_000005.9:g.1279790C>T
  • NM_198253.2:c.1951-205G>A
Links:
Genetic Testing Registry (GTR): GTR000500060; dbSNP: rs10069690
NCBI 1000 Genomes Browser:
rs10069690
Molecular consequence:
  • NM_001193376.3:c.1951-205G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198253.3:c.1951-205G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001891122GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Oct 24, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001891122.1

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

Description

This variant is associated with the following publications: (PMID: 26143636, 25919761, 26053551, 23535731, 22037553, 23066086)

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

Last Updated: Jul 15, 2024