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NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn) AND Specific granule deficiency 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 2021
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:
RCV002227502.1

Allele description [Variation Report for NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn)]

NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn)

Gene:
CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn)
HGVS:
  • NC_000014.9:g.23117491C>T
  • NG_009617.1:g.6775G>A
  • NM_001805.4:c.842G>AMANE SELECT
  • NP_001796.2:p.Ser281Asn
  • NP_001796.2:p.Ser281Asn
  • LRG_45:g.6775G>A
  • NC_000014.8:g.23586700C>T
  • NC_000014.8:g.23586700C>T
  • NM_001805.3:c.842G>A
Protein change:
S281N
Links:
dbSNP: rs149444043
NCBI 1000 Genomes Browser:
rs149444043
Molecular consequence:
  • NM_001805.4:c.842G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV002506625New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 21, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506625.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024