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NM_004562.3(PRKN):c.*320C>A AND Autosomal recessive juvenile Parkinson disease 2

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 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:
RCV001156803.4

Allele description [Variation Report for NM_004562.3(PRKN):c.*320C>A]

NM_004562.3(PRKN):c.*320C>A

Gene:
PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q26
Genomic location:
Preferred name:
NM_004562.3(PRKN):c.*320C>A
HGVS:
  • NC_000006.12:g.161349779G>T
  • NG_008289.2:g.1383024C>A
  • NM_004562.3:c.*320C>AMANE SELECT
  • NM_013987.3:c.*320C>A
  • NM_013988.3:c.*320C>A
  • NC_000006.11:g.161770811G>T
  • NM_004562.2:c.*320C>A
Links:
dbSNP: rs71653628
NCBI 1000 Genomes Browser:
rs71653628
Molecular consequence:
  • NM_004562.3:c.*320C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_013987.3:c.*320C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_013988.3:c.*320C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Autosomal recessive juvenile Parkinson disease 2
Synonyms:
Parkinson disease, juvenile, autosomal recessive; Parkinson disease autosomal recessive, early onset; Juvenile parkinsonism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010820; MedGen: C1868675; Orphanet: 2828; OMIM: 600116

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001318329Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.

Ghazavi F, Fazlali Z, Banihosseini SS, Hosseini SR, Kazemi MH, Shojaee S, Parsa K, Sadeghi H, Sina F, Rohani M, Shahidi GA, Ghaemi N, Ronaghi M, Elahi E.

Mov Disord. 2011 Jan;26(1):80-9. doi: 10.1002/mds.23417. Epub 2010 Nov 8.

PubMed [citation]
PMID:
21322020

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001318329.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Dec 24, 2023