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NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del) AND Specific granule deficiency 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002284160.1

Allele description [Variation Report for NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)]

NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)

Gene:
CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)
HGVS:
  • NC_000014.9:g.23117590_23117595del
  • NG_009617.1:g.6675_6680del
  • NM_001805.4:c.742_747delMANE SELECT
  • NP_001796.2:p.Ser248_Arg249del
  • NP_001796.2:p.Ser248_Arg249del
  • LRG_45t1:c.739_744del
  • LRG_45:g.6675_6680del
  • NC_000014.8:g.23586799_23586804del
  • NM_001805.2:c.738_743delCCGCAG
  • NM_001805.2:c.739_744del
Links:
OMIM: 600749.0005
Molecular consequence:
  • NM_001805.4:c.742_747del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Specific granule deficiency 1 (SGD1)
Synonyms:
LACTOFERRIN-DEFICIENT NEUTROPHILS; NEUTROPHIL LACTOFERRIN DEFICIENCY
Identifiers:
MONDO: MONDO:0044207; MedGen: C4551556; Orphanet: 169142; OMIM: 245480

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002573540OMIM
no assertion criteria provided
Pathogenic
(Sep 15, 2022) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency.

Wada T, Akagi T, Muraoka M, Toma T, Kaji K, Agematsu K, Koeffler HP, Yokota T, Yachie A.

J Immunol. 2015 Jul 1;195(1):80-6. doi: 10.4049/jimmunol.1402222. Epub 2015 May 27.

PubMed [citation]
PMID:
26019275

Details of each submission

From OMIM, SCV002573540.1

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

Description

In a 55-year-old Japanese woman (P1) with specific granule deficiency-1 (SGD1; 245480), Wada et al. (2015) identified a homozygous 6-bp in-frame deletion (C.739_744delCGCAGC) in exon 2 of the CEBPE gene, resulting in the deletion of 2 amino acids (Arg247_Ser248del) in the bZIP domain. In vitro studies in transfected HEK293 cells showed that the mutant protein was expressed and able to bind DNA, but the mutation resulted in a significant decrease in CEBPE transcriptional activity and loss of activation of secondary granule genes, likely due to impaired protein-protein interaction with other transcription factors. Parental consanguinity was likely.

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

Last Updated: Aug 5, 2023