NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 30, 2017
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:: RCV000483486.1

Allele description [Variation Report for NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)]

NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)

Gene:

ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)

HGVS:

NC_000019.10:g.855778_855779inv
NG_007274.1:g.1114_1115inv
NG_009627.1:g.8488_8489inv
NM_001972.4:c.581_582invMANE SELECT
NP_001963.1:p.Gln194Pro
LRG_57t1:c.581_582delAGinsCT
LRG_46:g.1114_1115inv
LRG_57:g.8488_8489inv
NC_000019.9:g.855778_855779delinsCT
NC_000019.9:g.855778_855779inv
NM_001972.2:c.581_582delAGinsCT

Protein change:

Q194P

Molecular consequence:

NM_001972.4:c.581_582inv - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571193	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Mar 30, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571193

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Mar 30, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000571193.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

To our knowledge, the c.581_582delAGinsCT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant. The variant is observed in 6/16428 (0.037%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The c.581_582delAGinsCT variant results in an in-frame substitution of one amino acid, denoted p.Q194P. It occurs at a position within the peptidase S1 domain that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. However, missense variants in nearby residues (R191S, R193Q) have been reported in the Human Gene Mutation Database in association with congenital neutropenia (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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