NM_001972.3(ELANE):c.600_601dupGG (p.Asp201Glyfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 24, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413923.1

Allele description [Variation Report for NM_001972.3(ELANE):c.600_601dupGG (p.Asp201Glyfs)]

NM_001972.3(ELANE):c.600_601dupGG (p.Asp201Glyfs)

Gene:
ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001972.3(ELANE):c.600_601dupGG (p.Asp201Glyfs)
HGVS:
  • NC_000019.10:g.855960_855961dupGG
  • NG_009627.1:g.8670_8671dup
  • NM_001972.3:c.600_601dup
  • NP_001963.1:p.Asp201Glyfs
  • LRG_57t1:c.600_601dup
  • LRG_57:g.8670_8671dup
  • LRG_57p1:p.Asp201Glyfs
  • NC_000019.9:g.855960_855961dupGG
  • NM_001972.2:c.600_601dupGG
Links:
dbSNP: rs1057518191
NCBI 1000 Genomes Browser:
rs1057518191
Molecular consequence:
  • NM_001972.3:c.600_601dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491633GeneDxcriteria provided, single submitter
Pathogenic
(Oct 24, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491633.1

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

Description

The c.600_601dupGG variant in the ELANE gene causes a frameshift starting with codon Aspartic acid 201, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Asp201GlyfsX12. This variant is predicted to cause loss of normal protein function through protein truncation, as the final 67 amino acids are replaced by 11 incorrect amino acids. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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

Last Updated: Jun 17, 2019

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