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NM_198253.3(TERT):c.1562G>A (p.Arg521His) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 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:
RCV002400419.2

Allele description

NM_198253.3(TERT):c.1562G>A (p.Arg521His)

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.1562G>A (p.Arg521His)
HGVS:
  • NC_000005.10:g.1293324C>T
  • NG_009265.1:g.6724G>A
  • NM_001193376.3:c.1562G>A
  • NM_003219.1:c.1562G>A
  • NM_198253.3:c.1562G>AMANE SELECT
  • NP_001180305.1:p.Arg521His
  • NP_003210.1:p.Arg521His
  • NP_937983.2:p.Arg521His
  • NP_937983.2:p.Arg521His
  • LRG_343t1:c.1562G>A
  • LRG_343:g.6724G>A
  • LRG_343p1:p.Arg521His
  • NC_000005.9:g.1293439C>T
  • NM_198253.2:c.1562G>A
  • NR_149162.3:n.1641G>A
  • NR_149163.3:n.1641G>A
Protein change:
R521H
Molecular consequence:
  • NM_001193376.3:c.1562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003219.1:c.1562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1562G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.1641G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1641G>A - 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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    unknown [Zea mays]
    gi|224030753|gb|ACN34452.1|
    Protein
  • Caenorhabditis elegans
    Caenorhabditis elegans
    Global genetic robustness of the alternative splicing machinery in C. elegans
    BioProject

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002708733Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Sep 12, 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, SCV002708733.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R521H variant (also known as c.1562G>A), located in coding exon 2 of the TERT gene, results from a G to A substitution at nucleotide position 1562. The arginine at codon 521 is replaced by histidine, 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: May 12, 2024