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NM_198253.3(TERT):c.838G>A (p.Glu280Lys) AND Acute myeloid leukemia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 7, 2023
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:
RCV003316717.8

Allele description [Variation Report for NM_198253.3(TERT):c.838G>A (p.Glu280Lys)]

NM_198253.3(TERT):c.838G>A (p.Glu280Lys)

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.838G>A (p.Glu280Lys)
HGVS:
  • NC_000005.10:g.1294048C>T
  • NG_009265.1:g.6000G>A
  • NM_001193376.3:c.838G>A
  • NM_198253.3:c.838G>AMANE SELECT
  • NP_001180305.1:p.Glu280Lys
  • NP_937983.2:p.Glu280Lys
  • NP_937983.2:p.Glu280Lys
  • LRG_343t1:c.838G>A
  • LRG_343:g.6000G>A
  • LRG_343p1:p.Glu280Lys
  • NC_000005.9:g.1294163C>T
  • NM_198253.2:c.838G>A
  • NR_149162.3:n.917G>A
  • NR_149163.3:n.917G>A
Protein change:
E280K
Links:
dbSNP: rs199701877
NCBI 1000 Genomes Browser:
rs199701877
Molecular consequence:
  • NM_001193376.3:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.917G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.917G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015591KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004015591.1

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

Last Updated: Nov 10, 2024