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NM_001972.4(ELANE):c.744C>G (p.Arg248=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 8, 2020
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:
RCV001796435.14

Allele description [Variation Report for NM_001972.4(ELANE):c.744C>G (p.Arg248=)]

NM_001972.4(ELANE):c.744C>G (p.Arg248=)

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.744C>G (p.Arg248=)
HGVS:
  • NC_000019.10:g.856104C>G
  • NG_007274.1:g.1440C>G
  • NG_009627.1:g.8814C>G
  • NM_001972.4:c.744C>GMANE SELECT
  • NP_001963.1:p.Arg248=
  • LRG_46:g.1440C>G
  • LRG_57:g.8814C>G
  • NC_000019.9:g.856104C>G
Links:
dbSNP: rs2035677633
NCBI 1000 Genomes Browser:
rs2035677633
Molecular consequence:
  • NM_001972.4:c.744C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cyclical neutropenia
Synonyms:
Cyclic hematopoiesis
Identifiers:
MONDO: MONDO:0008090; MedGen: C0221023; Orphanet: 2686; OMIM: 162800; Human Phenotype Ontology: HP:0040289
Name:
Neutropenia, severe congenital, 1, autosomal dominant
Identifiers:
MONDO: MONDO:0042490; MedGen: C1859966; OMIM: 202700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001497922Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 8, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001497922.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ELANE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 248 of the ELANE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ELANE protein.

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

Last Updated: Apr 15, 2024