NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54) AND AML - Acute myeloid leukemia

Clinical significance:Pathogenic (Last evaluated: Oct 21, 2010)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000020585.1

Allele description [Variation Report for NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54)]

Gene:
CEBPA:CCAAT/enhancer binding protein (C/EBP), alpha [Gene - OMIM]
Variant type:
Duplication
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_004364.4(CEBPA):c.318_319dupTG (p.Asp107Valfs*54)
HGVS:
  • NC_000019.10:g.33302096_33302097dupCA
  • NG_012022.1:g.5428_5429dupTG
  • NM_004364.4:c.318_319dupTG
  • NP_004355.2:p.Asp107Valfs*54
  • LRG_456:g.5428_5429dupTG
  • LRG_456p1:p.Asp107Valfs
  • NC_000019.9:g.33793002_33793003dupCA
  • NP_004355.2:p.Asp107Valfs
  • NM_004364.3:c.318_319dupT
Links:
dbSNP: 137852732
NCBI 1000 Genomes Browser:
rs137852732
Molecular consequence:
  • NR_026887.1:n.-761_-760dupCA - 2KB upstream variant - [Sequence Ontology: SO:0001636]
  • NM_004364.3:c.318_319dupTG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001285829.1:c.-40_-39dupTG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
AML - Acute myeloid leukemia (AML)
Synonyms:
Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA; Leukemia, acute myelogenous; Leukemia, acute myeloid; See all synonyms [MedGen]
Identifiers:
MedGen: C0023467; Orphanet: 519; OMIM: 601626
Age of onset:
Variable
Prevalence:
1-9 / 100 000 519

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000041072GeneReviewspathologic
(Oct 21, 2010)
not providedliterature only

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000041072.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 13, 2015

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