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NM_004562.3(PRKN):c.220_221dup (p.Trp74fs) AND Autosomal recessive juvenile Parkinson disease 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 5, 2020
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:
RCV001809895.1

Allele description [Variation Report for NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)]

NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)

Gene:
PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q26
Genomic location:
Preferred name:
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)
HGVS:
  • NC_000006.12:g.162262717_162262718dup
  • NG_008289.2:g.470086_470087dup
  • NM_004562.3:c.220_221dupMANE SELECT
  • NM_013987.3:c.220_221dup
  • NM_013988.3:c.171+180593_171+180594dup
  • NP_004553.2:p.Trp74fs
  • NP_054642.2:p.Trp74fs
  • NC_000006.11:g.162683747_162683748insCA
  • NC_000006.11:g.162683749_162683750dup
  • NM_004562.2:c.220_221dup
  • NM_004562.2:c.220_221dupTG
Protein change:
W74fs
Links:
dbSNP: rs746646126
NCBI 1000 Genomes Browser:
rs746646126
Molecular consequence:
  • NM_004562.3:c.220_221dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013987.3:c.220_221dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_013988.3:c.171+180593_171+180594dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002059554Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 5, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024