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NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 30, 2015
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:
RCV000214338.2

Allele description [Variation Report for NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)]

NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)

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.640G>A (p.Gly214Arg)
Other names:
G185R
HGVS:
  • NC_000019.10:g.856000G>A
  • NG_007274.1:g.1336G>A
  • NG_009627.1:g.8710G>A
  • NM_001972.4:c.640G>AMANE SELECT
  • NP_001963.1:p.Gly214Arg
  • LRG_57t1:c.640G>A
  • LRG_46:g.1336G>A
  • LRG_57:g.8710G>A
  • NC_000019.9:g.856000G>A
  • NM_001972.2:c.640G>A
  • NM_001972.3:c.640G>A
  • P08246:p.Gly214Arg
Protein change:
G214R; GLY185ARG
Links:
UniProtKB: P08246#VAR_038625; OMIM: 130130.0011; dbSNP: rs137854451
NCBI 1000 Genomes Browser:
rs137854451
Molecular consequence:
  • NM_001972.4:c.640G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000278970GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 30, 2015) 		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, SCV000278970.9

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

Description

The G214R missense mutation in the ELANE gene has been reported previously (as G185R) in association with congenital neutropenia (Dale et al., 2000; Bellanné-Chantelot et al., 2004). The G214R mutation 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: Sep 29, 2024