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NM_001972.4(ELANE):c.598-1G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2024
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:
RCV000578634.2

Allele description [Variation Report for NM_001972.4(ELANE):c.598-1G>A]

NM_001972.4(ELANE):c.598-1G>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.598-1G>A
HGVS:
  • NC_000019.10:g.855957G>A
  • NG_007274.1:g.1293G>A
  • NG_009627.1:g.8667G>A
  • NM_001972.4:c.598-1G>AMANE SELECT
  • LRG_57t1:c.598-1G>A
  • LRG_46:g.1293G>A
  • LRG_57:g.8667G>A
  • NC_000019.9:g.855957G>A
  • NM_001972.2:c.598-1G>A
Links:
dbSNP: rs201117839
NCBI 1000 Genomes Browser:
rs201117839
Molecular consequence:
  • NM_001972.4:c.598-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000681071GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 19, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000681071.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024