NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) AND Neutropenia, severe congenital, 1, autosomal dominant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 5, 2014
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:: RCV000190507.1

Allele description [Variation Report for NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)]

NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)

Gene:

ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)

HGVS:

NC_000019.10:g.855758C>A
NG_007274.1:g.1094C>A
NG_009627.1:g.8468C>A
NM_001972.4:c.561C>AMANE SELECT
NP_001963.1:p.Cys187Ter
LRG_46:g.1094C>A
LRG_57:g.8468C>A
NC_000019.9:g.855758C>A

Protein change:

C187*

Links:

dbSNP: rs797045009

NCBI 1000 Genomes Browser:

rs797045009

Molecular consequence:

NM_001972.4:c.561C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Neutropenia, severe congenital, 1, autosomal dominant
Identifiers:: MONDO: MONDO:0042490; MedGen: C1859966; OMIM: 202700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245393	Mendelics	no assertion criteria provided	Pathogenic (Mar 5, 2014)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17053055, 20301705

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245393

Mendelics

no assertion criteria provided

Pathogenic
(Mar 5, 2014)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Neutrophil elastase in cyclic and severe congenital neutropenia.

Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ.

Blood. 2007 Mar 1;109(5):1817-24. Epub 2006 Oct 19. Review.

PubMed [citation]

PMID:: 17053055
PMCID:: PMC1801070

ELANE-Related Neutropenia.

Dale DC, Makaryan V.

2002 Jun 17 [updated 2018 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301705

Details of each submission

From Mendelics, SCV000245393.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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