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NM_001972.4(ELANE):c.287G>C (p.Arg96Pro) AND Cyclical neutropenia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 2023
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:
RCV003126285.1

Allele description [Variation Report for NM_001972.4(ELANE):c.287G>C (p.Arg96Pro)]

NM_001972.4(ELANE):c.287G>C (p.Arg96Pro)

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.287G>C (p.Arg96Pro)
HGVS:
  • NC_000019.10:g.853324G>C
  • NG_009627.1:g.6034G>C
  • NM_001972.4:c.287G>CMANE SELECT
  • NP_001963.1:p.Arg96Pro
  • NP_001963.1:p.Arg96Pro
  • LRG_57t1:c.287G>C
  • LRG_57:g.6034G>C
  • LRG_57p1:p.Arg96Pro
  • NC_000019.9:g.853324G>C
  • NM_001972.2:c.287G>C
Protein change:
R96P
Molecular consequence:
  • NM_001972.4:c.287G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003801375Department of Human Genetics, Hannover Medical School
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 13, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Human Genetics, Hannover Medical School, SCV003801375.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The VUS detected here is a missense variant that leads to an exchange of the amino acid arginine, which is highly conserved at the site, to proline. The variant is not listed in the LOVD shared and ClinVar databases. A variant NM_001972.4(ELANE):c.286C>T (p.Arg96Trp) listed at the same amino acid position is scored as VUS in the ClinVar database. The variant is not listed in the gnomAD population database (gnomAD; ALL). An in silico analysis of this change using the REVEL program (see below) suggests that it may be a variant without clinical significance. Literature data are currently not available.

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

Last Updated: Mar 26, 2023