NM_004364.4(CEBPA):c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln) AND Acute myeloid leukemia

Clinical significance:Pathogenic (Last evaluated: May 1, 2003)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000019129.5

Allele description [Variation Report for NM_004364.4(CEBPA):c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln)]

NM_004364.4(CEBPA):c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln)

Gene:
CEBPA:CCAAT/enhancer binding protein alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.1
Genomic location:
Preferred name:
NM_004364.4(CEBPA):c.935_991dup57 (p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln)
HGVS:
  • NC_000019.10:g.33301424_33301480dup57
  • NG_012022.1:g.6045_6101dup57
  • NM_004364.4:c.935_991dup57
  • NP_004355.2:p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln
  • LRG_456:g.6045_6101dup57
  • LRG_456p1:p.Gln330_Leu331insGlnLysValLeuGluLeuThrSerAspAsnAspArgLeuArgLysArgValGluGln
  • NC_000019.9:g.33792330_33792386dup57
Note:
NCBI staff reviewed the sequence information reported in PubMed 12661007 Fig. 2D to determine the location of this allele on the current reference sequence.
Links:
dbVar: nssv3761576; dbVar: nsv1067878; OMIM: 116897.0004

Condition(s)

Name:
Acute myeloid leukemia (AML)
Synonyms:
Leukemia, acute myelogenous; Leukemia, acute myeloid, somatic; Leukemia, acute myelogenous, somatic
Identifiers:
MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039417OMIMno assertion criteria providedPathogenic
(May 1, 2003)
somaticliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2.

Snaddon J, Smith ML, Neat M, Cambal-Parrales M, Dixon-McIver A, Arch R, Amess JA, Rohatiner AZ, Lister TA, Fitzgibbon J.

Genes Chromosomes Cancer. 2003 May;37(1):72-8.

PubMed [citation]
PMID:
12661007

Details of each submission

From OMIM, SCV000039417.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 37-year-old man with acute myeloid leukemia (601626) of the M1 subtype, Snaddon et al. (2003) identified homozygosity for a somatic 57-bp insertion after nucleotide 1137 (1137_1138ins57) of the CEBPA gene, which was predicted to cause disruption of the leucine zipper of the protein.

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

Last Updated: Sep 15, 2017