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NM_004562.3(PRKN):c.491del (p.Val164fs) AND Autosomal recessive juvenile Parkinson disease 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001789789.1

Allele description [Variation Report for NM_004562.3(PRKN):c.491del (p.Val164fs)]

NM_004562.3(PRKN):c.491del (p.Val164fs)

Genes:
LOC126859871:MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558 [Gene]
PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q26
Genomic location:
Preferred name:
NM_004562.3(PRKN):c.491del (p.Val164fs)
HGVS:
  • NC_000006.12:g.162201174del
  • NG_008289.2:g.531629del
  • NM_004562.3:c.491delMANE SELECT
  • NM_013987.3:c.491del
  • NM_013988.3:c.172-227757del
  • NP_004553.2:p.Val164fs
  • NP_054642.2:p.Val164fs
  • NC_000006.11:g.162622206del
  • NM_004562.3:c.491delTMANE SELECT
Protein change:
V164fs
Links:
dbSNP: rs2128330405
NCBI 1000 Genomes Browser:
rs2128330405
Molecular consequence:
  • NM_004562.3:c.491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013987.3:c.491del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013988.3:c.172-227757del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV001733595Istanbul Faculty of Medicine, Istanbul University
no assertion criteria provided
Pathogenic
(Mar 24, 2017) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Istanbul Faculty of Medicine, Istanbul University, SCV001733595.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Identified in index patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023