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NC_000001.10:g.(?_20972033)_(20972236_?)del AND Autosomal recessive early-onset Parkinson disease 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 10, 2021
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:
RCV003122867.2

Allele description

NC_000001.10:g.(?_20972033)_(20972236_?)del

Gene:
PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.12
Genomic location:
Chr1: 20972033 - 20972236 (on Assembly GRCh37)
Preferred name:
NC_000001.10:g.(?_20972033)_(20972236_?)del
HGVS:
NC_000001.10:g.(?_20972033)_(20972236_?)del

Condition(s)

Name:
Autosomal recessive early-onset Parkinson disease 6
Synonyms:
PARKINSON DISEASE 6, EARLY-ONSET; PARKINSON DISEASE 6, MODIFIER OF; PINK1-Related Parkinson Disease
Identifiers:
MONDO: MONDO:0011613; MedGen: C1853833; Orphanet: 2828; OMIM: 605909

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003795728Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Hereditary early-onset Parkinson's disease caused by mutations in PINK1.

Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW.

Science. 2004 May 21;304(5674):1158-60. Epub 2004 Apr 15.

PubMed [citation]
PMID:
15087508

Novel PINK1 mutations in early-onset parkinsonism.

Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N.

Ann Neurol. 2004 Sep;56(3):424-7. Erratum in: Ann Neurol. 2004 Oct;56(4):603.

PubMed [citation]
PMID:
15349870
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003795728.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the PINK1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PINK1 are known to be pathogenic (PMID: 15087508, 15349870). A similar copy number variant has been observed in individual(s) with early-onset Parkinson's disease (PMID: 23880019). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 18, 2023