NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) AND Acute myeloid leukemia

Clinical significance:Pathogenic (Last evaluated: May 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001172450.1

Allele description [Variation Report for NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)]

NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)

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.1891C>T (p.Arg631Trp)
HGVS:
  • NC_000005.10:g.1280217G>A
  • NG_009265.1:g.19831C>T
  • NM_001193376.3:c.1891C>T
  • NM_198253.3:c.1891C>TMANE SELECT
  • NP_001180305.1:p.Arg631Trp
  • NP_937983.2:p.Arg631Trp
  • LRG_343t1:c.1891C>T
  • LRG_343:g.19831C>T
  • NC_000005.9:g.1280332G>A
  • NM_198253.2:c.1891C>T
  • NR_149162.3:n.1970C>T
  • NR_149163.3:n.1970C>T
Protein change:
R631W
Molecular consequence:
  • NM_001193376.3:c.1891C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.1891C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.1970C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.1970C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001251974Godley laboratory, The University of Chicagocriteria provided, single submitter
Pathogenic
(May 18, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.

Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T.

Haematologica. 2008 Jun;93(6):943-4. doi: 10.3324/haematol.12317. Epub 2008 May 6. No abstract available.

PubMed [citation]
PMID:
18460650
See all PubMed Citations (3)

Details of each submission

From Godley laboratory, The University of Chicago, SCV001251974.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (3)

Description

This heterozygous variant was found in germline in a 75-year old patient with AML with myelodysplasia-associated changes. The following ACMG/AMP criteria were applied: PS1, PM1, PM5, PP2, PP3.

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

Last Updated: Oct 24, 2021

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