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NM_001285829.1(CEBPA):c.-290del

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jan 8, 2013)
Last evaluated:
Oct 21, 2010
Accession:
VCV000017572.7
Variation ID:
17572
Description:
1bp deletion
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NM_001285829.1(CEBPA):c.-290del

Allele ID
32611
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
19q13.11
Genomic location
19: 33302347 (GRCh38) GRCh38 UCSC
19: 33793253 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.33302352del
NC_000019.9:g.33793258del
NG_012022.1:g.5178del
... more HGVS
Protein change
P58fs, P9fs, P23fs
Other names
-
Canonical SPDI
NC_000019.10:33302346:GGGGGG:GGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA341467
OMIM: 116897.0007
dbSNP: rs137852728
Varsome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed PMID 15575056 Fig. 3 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Oct 21, 2010 RCV000019132.41
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CEBPA - - GRCh38
GRCh37
483 498

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathologic
(Oct 21, 2010)
no assertion criteria provided
Method: curation
Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA
Allele origin: not provided
GeneReviews
Accession: SCV000041073.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Dec 02, 2004)
no assertion criteria provided
Method: literature only
LEUKEMIA, ACUTE MYELOID (1 family)
Allele origin: unknown
OMIM
Accession: SCV000039420.16
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
<i>CEBPA-</i>Associated Familial Acute Myeloid Leukemia (AML) Tawana K - 2021 PMID: 20963938
Mutation of CEBPA in familial acute myeloid leukemia. Smith ML The New England journal of medicine 2004 PMID: 15575056
Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML. Barjesteh van Waalwijk van Doorn-Khosrovani S The hematology journal : the official journal of the European Haematology Association 2003 PMID: 12692518

Text-mined citations for rs137852728...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2021