NM_032409.2(PINK1):c.736C>T (p.Arg246Ter) AND Parkinson disease 6, autosomal recessive early-onset

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002508.3

Allele description [Variation Report for NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)]

NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)

Gene:
PINK1:PTEN induced putative kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)
HGVS:
  • NC_000001.11:g.20639952C>T
  • NG_008164.1:g.11498C>T
  • NM_032409.2:c.736C>T
  • NP_115785.1:p.Arg246Ter
  • NC_000001.10:g.20966445C>T
Protein change:
R246*; ARG246TER
Links:
OMIM: 608309.0003; dbSNP: 74315357
NCBI 1000 Genomes Browser:
rs74315357
Molecular consequence:
  • NM_032409.2:c.736C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Parkinson disease 6, autosomal recessive early-onset (PARK6)
Synonyms:
PARKINSON DISEASE 6, EARLY-ONSET; PARKINSON DISEASE 6, MODIFIER OF; PINK1-Related Parkinson Disease
Identifiers:
MedGen: C1853833; Orphanet: 2828; OMIM: 605909

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022666OMIMno assertion criteria providedPathogenic
(Sep 1, 2004)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000022666.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of 2 consanguineous families, 1 Japanese and 1 Israeli, with Parkinson disease (PARK6; 605909), Hatano et al. (2004) identified a homozygous 736C-T transition in exon 3 of the PINK1 gene, resulting in an arg246-to-ter (R246X) substitution. The mutation was predicted to result in a truncated protein lacking 336 amino acids, including a highly conserved protein kinase domain. Two affected Israeli patients showed psychiatric disturbances at the onset of the disease. One unaffected Israeli family member was heterozygous for the mutation.

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

Last Updated: Sep 5, 2017