NM_001972.4(ELANE):c.597+1G>A AND Cyclical neutropenia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1999
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:: RCV000018225.35

Allele description [Variation Report for NM_001972.4(ELANE):c.597+1G>A]

NM_001972.4(ELANE):c.597+1G>A

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.597+1G>A

HGVS:

NC_000019.10:g.855795G>A
NG_007274.1:g.1131G>A
NG_009627.1:g.8505G>A
NM_001972.4:c.597+1G>AMANE SELECT
LRG_57t1:c.597+1G>A
LRG_46:g.1131G>A
LRG_57:g.8505G>A
NC_000019.9:g.855795G>A
NM_001972.2:c.597+1G>A
NM_001972.3:c.597+1G>A

Nucleotide change:

IVS4DS, G-A, +1

Links:

OMIM: 130130.0004; dbSNP: rs1555710005

NCBI 1000 Genomes Browser:

rs1555710005

Molecular consequence:

NM_001972.4:c.597+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Cyclical neutropenia
Synonyms:: Cyclic hematopoiesis
Identifiers:: MONDO: MONDO:0008090; MedGen: C0221023; Orphanet: 2686; OMIM: 162800; Human Phenotype Ontology: HP:0040289

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000038504	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000038504

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1999)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC.

Nat Genet. 1999 Dec;23(4):433-6.

PubMed [citation]

PMID:: 10581030

Details of each submission

From OMIM, SCV000038504.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 of 13 families and in a sporadic new mutation case with cyclic neutropenia (162800), Horwitz et al. (1999) found a splice donor mutation of intron 4 of the ELA2 gene, a transition of the invariant guanine to an adenine at the +1 position. The parents were not affected and did not carry the mutation, and paternity was confirmed.

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

Last Updated: May 19, 2024

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