NM_198253.3(TERT):c.1849C>T (p.Leu617=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Mar 28, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000244189.3

Allele description [Variation Report for NM_198253.3(TERT):c.1849C>T (p.Leu617=)]

NM_198253.3(TERT):c.1849C>T (p.Leu617=)

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.1849C>T (p.Leu617=)
HGVS:
  • NC_000005.10:g.1280259G>A
  • NG_009265.1:g.19789C>T
  • NM_001193376.3:c.1849C>T
  • NM_198253.2:c.1849C>T
  • NM_198253.3:c.1849C>TMANE SELECT
  • NP_001180305.1:p.Leu617=
  • NP_937983.2:p.Leu617=
  • NP_937983.2:p.Leu617=
  • LRG_343t1:c.1849C>T
  • LRG_343:g.19789C>T
  • LRG_343p1:p.Leu617=
  • NC_000005.9:g.1280374G>A
  • NR_149162.3:n.1928C>T
  • NR_149163.3:n.1928C>T
Links:
dbSNP: rs140951453
NCBI 1000 Genomes Browser:
rs140951453
Molecular consequence:
  • NR_149162.3:n.1928C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1928C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001193376.3:c.1849C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198253.2:c.1849C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198253.3:c.1849C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000316908PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000597451Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Benign
(Mar 28, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000316908.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genetic Services Laboratory,University of Chicago, SCV000597451.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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