NM_198253.3(TERT):c.1590G>C (p.Pro530=) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000826056.1

Allele description [Variation Report for NM_198253.3(TERT):c.1590G>C (p.Pro530=)]

NM_198253.3(TERT):c.1590G>C (p.Pro530=)

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.1590G>C (p.Pro530=)
HGVS:
  • NC_000005.10:g.1282608C>G
  • NG_009265.1:g.17440G>C
  • NM_001193376.2:c.1590G>C
  • NM_198253.2:c.1590G>C
  • NM_198253.3:c.1590G>CMANE SELECT
  • NP_001180305.1:p.Pro530=
  • NP_937983.2:p.Pro530=
  • LRG_343t1:c.1590G>C
  • LRG_343:g.17440G>C
  • NC_000005.9:g.1282723C>G
  • NR_149162.2:n.1669G>C
  • NR_149163.2:n.1669G>C
  • p.Pro530Pro
Links:
dbSNP: rs1396912668
NCBI 1000 Genomes Browser:
rs1396912668
Molecular consequence:
  • NR_149162.2:n.1669G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.2:n.1669G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001193376.2:c.1590G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198253.3:c.1590G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000967550Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 13, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000967550.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Pro530Pro var iant in TERT has not been previously reported in individuals with short telomere syndromes or pulmonary fibrosis but has been identified in 1/11090 of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). The variant does not a lter an amino acid residue and is not located within the splice consensus sequen ce. In summary, while the clinical significance of the p.Pro530Pro variant is un certain, its predicted impact suggests that it is more likely to be benign. ACMG /AMP Criteria applied: BP7, PM2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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