NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 25, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000757724.1

Allele description [Variation Report for NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter)]

NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter)

Gene:
RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter)
HGVS:
  • NC_000021.9:g.34799310G>A
  • NG_011402.2:g.1190402C>T
  • NM_001001890.3:c.877C>T
  • NM_001754.4:c.958C>T
  • NP_001001890.1:p.Arg293Ter
  • NP_001745.2:p.Arg320Ter
  • LRG_482t1:c.958C>T
  • LRG_482:g.1190402C>T
  • LRG_482p1:p.Arg320Ter
  • NC_000021.8:g.36171607G>A
  • NM_001754.4(RUNX1):c.958C>T
  • p.Arg320*
  • p.Arg320Ter
Protein change:
R293*
Links:
dbSNP: rs1569008655
NCBI 1000 Genomes Browser:
rs1569008655
Molecular consequence:
  • NM_001001890.3:c.877C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001754.4:c.958C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000886060ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(Jan 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000886060.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The RUNX1 c.958C>T; p.Arg320Ter variant, also known as R292X, is reported in the germline of individuals with familial platelet disorder with associated myeloid malignancies (FPDMM) (Owen 2008, Patton 2007, Rossini 2012). This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon; since it occurs toward the end of the penultimate exon the transcript is less likely to be subject to nonsense-mediated decay and more likely to yield a truncated protein, but mRNA nonsense-mediated decay cannot be ruled out. Based on available information, this variant is considered pathogenic. REFERENCES Owen CJ et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008 Dec 1;112(12):4639-45. Patton WN et al. Novel Heritable Mutation of the Transcription Factor RUNX1 as a Cause of Autosomal Dominant Familial Platelet Disorder with Predisposition to Acute Myeloid Leukemia (FPD/AML). Blood 2007 110:4244. Rossini et al. Familial platelet disorders with a predisposition to acute myelogenous leukaemia: a RUNX1 update. Hereditary Cancer in Clinical Practice 2012. 10(Suppl 2)A64.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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