U.S. flag

An official website of the United States government

NM_004364.5(CEBPA):c.247del (p.Gln83fs) AND Acute myeloid leukemia

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002282506.1

Allele description [Variation Report for NM_004364.5(CEBPA):c.247del (p.Gln83fs)]

NM_004364.5(CEBPA):c.247del (p.Gln83fs)

Gene:
CEBPA:CCAAT enhancer binding protein alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_004364.5(CEBPA):c.247del (p.Gln83fs)
HGVS:
  • NC_000019.10:g.33302169del
  • NG_012022.1:g.5357del
  • NM_001285829.2:c.-111del
  • NM_001287424.2:c.352del
  • NM_001287435.2:c.205del
  • NM_004364.5:c.247delMANE SELECT
  • NP_001274353.1:p.Gln118fs
  • NP_001274364.1:p.Gln69fs
  • NP_004355.2:p.Gln83fs
  • LRG_456t1:c.247del
  • LRG_456:g.5357del
  • NC_000019.9:g.33793075del
  • NM_004364.3:c.247delC
  • NM_004364.5:c.247delCMANE SELECT
Protein change:
Q118fs
Links:
dbSNP: rs1967192886
NCBI 1000 Genomes Browser:
rs1967192886
Molecular consequence:
  • NM_001285829.2:c.-111del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001287424.2:c.352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001287435.2:c.205del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004364.5:c.247del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002104210Genomic Diagnostics Laboratory, National Institute of Medical Genomics
criteria provided, single submitter

(AMP Guidelines, 2017)		Pathogenicsomaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot 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 Diagnostics Laboratory, National Institute of Medical Genomics, SCV002104210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The variant was detected in bone marrow from patients, but it was not confirmed in the matched

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providedBone marrownot providednot providednot providednot providednot provided

Last Updated: Feb 4, 2024