NM_007262.5(PARK7):c.234C>T (p.Gly78=) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Sep 30, 2018
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:: RCV000712504.6

Allele description [Variation Report for NM_007262.5(PARK7):c.234C>T (p.Gly78=)]

NM_007262.5(PARK7):c.234C>T (p.Gly78=)

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.234C>T (p.Gly78=)

HGVS:

NC_000001.11:g.7969386C>T
NG_008271.1:g.12733C>T
NM_001123377.2:c.234C>T
NM_007262.5:c.234C>TMANE SELECT
NP_001116849.1:p.Gly78=
NP_009193.2:p.Gly78=
NC_000001.10:g.8029446C>T
NM_007262.4:c.234C>T

Links:

dbSNP: rs11548937

NCBI 1000 Genomes Browser:

rs11548937

Molecular consequence:

NM_001123377.2:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007262.5:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000843009	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Jun 18, 2018)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 12953260, 20981092, 27884173, 26467025
SCV001755835	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Sep 30, 2018)	germline	clinical testing	Citation Link,
SCV005263833	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000843009

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Jun 18, 2018)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001755835

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Sep 30, 2018)

germline

clinical testing

Citation Link,

SCV005263833

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

PubMed (1)
[See all records that cite this PMID]

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, not provided
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The role of pathogenic DJ-1 mutations in Parkinson's disease.

Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW.

Ann Neurol. 2003 Sep;54(3):283-6.

PubMed [citation]

PMID:: 12953260

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium., Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Debo.

PubMed [citation]

PMID:: 20981092
PMCID:: PMC3042601

See all PubMed Citations (5)

Details of each submission

From Athena Diagnostics, SCV000843009.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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 GeneDx, SCV001755835.1

#	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: 27884173, 12953260, 20981092)

#	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 Breakthrough Genomics, Breakthrough Genomics, SCV005263833.1

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

#	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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