NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) AND Acute megakaryoblastic leukemia without down syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001293750.1

Allele description [Variation Report for NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)]

NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)

Gene:
EPOR:erythropoietin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
HGVS:
  • NC_000019.10:g.11378195C>T
  • NG_021395.1:g.11148G>A
  • NM_000121.4:c.1316G>AMANE SELECT
  • NP_000112.1:p.Trp439Ter
  • NP_000112.1:p.Trp439Ter
  • NC_000019.9:g.11488871C>T
  • NM_000121.3:c.1316G>A
  • NR_033663.2:n.1673G>A
Protein change:
W439*
Links:
dbSNP: rs121917830
NCBI 1000 Genomes Browser:
rs121917830
Molecular consequence:
  • NR_033663.2:n.1673G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000121.4:c.1316G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Acute megakaryoblastic leukemia without down syndrome
Identifiers:
MONDO: MONDO:0018004; MedGen: CN204216

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001480503Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Likely pathogenic
(Sep 1, 2020)
somaticclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2017 Jan;19(1):4-23. doi: 10.1016/j.jmoldx.2016.10.002. Review.

PubMed [citation]
PMID:
27993330
PMCID:
PMC5707196

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV001480503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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