NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (5 submissions)
Last evaluated:: Jan 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000529085.21

Allele description

NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)

Gene:

PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)

HGVS:

NC_000001.11:g.7970934G>A
NG_008271.1:g.14281G>A
NM_001123377.2:c.293G>A
NM_007262.5:c.293G>AMANE SELECT
NP_001116849.1:p.Arg98Gln
NP_009193.2:p.Arg98Gln
NC_000001.10:g.8030994G>A
NM_007262.4:c.293G>A

Protein change:

R98Q

Links:

dbSNP: rs71653619

NCBI 1000 Genomes Browser:

rs71653619

Molecular consequence:

NM_001123377.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007262.5:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001144867	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Mar 29, 2019)	germline	clinical testing	PubMed (14) [See all records that cite these PMIDs] 22173095, 14662519, 14872018, 14705128, 16997464, 27294386, 12891685, 26274610, 27592010, 19429112, 15219840, 15790532, 22428580, 26467025
SCV001743607	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001757700	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 25, 2019)	germline	clinical testing	Citation Link,
SCV001975063	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002543851	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Jan 1, 2024)	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	20	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson disease, is due to direct endoproteolytic cleavage by the proteasome.

Alvarez-Castelao B, Muñoz C, Sánchez I, Goethals M, Vandekerckhove J, Castaño JG.

Biochim Biophys Acta. 2012 Feb;1823(2):524-33. doi: 10.1016/j.bbamcr.2011.11.010. Epub 2011 Dec 8.

PubMed [citation]

PMID:: 22173095

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.

Bandopadhyay R, Kingsbury AE, Cookson MR, Reid AR, Evans IM, Hope AD, Pittman AM, Lashley T, Canet-Aviles R, Miller DW, McLendon C, Strand C, Leonard AJ, Abou-Sleiman PM, Healy DG, Ariga H, Wood NW, de Silva R, Revesz T, Hardy JA, Lees AJ.

Brain. 2004 Feb;127(Pt 2):420-30. Epub 2003 Dec 8.

PubMed [citation]

PMID:: 14662519

See all PubMed Citations (14)

Details of each submission

From Athena Diagnostics Inc, SCV001144867.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001743607.3

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

#	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

From GeneDx, SCV001757700.1

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

Description

This variant is associated with the following publications: (PMID: 25466404, 16997464, 27535533, 17504761, 15254937, 15790532, 26274610, 27884173, 27592010, 12891685, 22428580, 22995991, 22960331, 15219840, 22173095, 14705128)

#	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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001975063.1

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002543851.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	20	not provided	not provided	clinical testing	not provided

Description

PARK7: BP4, BS1, BS2

#	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		20	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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