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NM_198253.3(TERT):c.1558C>G (p.Leu520Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 22, 2022
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:
RCV002398022.8

Allele description

NM_198253.3(TERT):c.1558C>G (p.Leu520Val)

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.1558C>G (p.Leu520Val)
HGVS:
  • NC_000005.10:g.1293328G>C
  • NG_009265.1:g.6720C>G
  • NM_001193376.3:c.1558C>G
  • NM_198253.3:c.1558C>GMANE SELECT
  • NP_001180305.1:p.Leu520Val
  • NP_937983.2:p.Leu520Val
  • LRG_343t1:c.1558C>G
  • LRG_343:g.6720C>G
  • NC_000005.9:g.1293443G>C
  • NM_198253.2:c.1558C>G
  • NR_149162.3:n.1637C>G
  • NR_149163.3:n.1637C>G
Protein change:
L520V
Links:
dbSNP: rs1751110507
NCBI 1000 Genomes Browser:
rs1751110507
Molecular consequence:
  • NM_001193376.3:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1558C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.1637C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1637C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Dyskeratosis congenita
Identifiers:
MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550
Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002704927Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Feb 22, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002704927.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L520V variant (also known as c.1558C>G), located in coding exon 2 of the TERT gene, results from a C to G substitution at nucleotide position 1558. The leucine at codon 520 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024