NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys) AND Parkinson disease 8, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Sep 13, 2012)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000002014.2

Allele description [Variation Report for NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)]

NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)

Gene:
LRRK2:leucine rich repeat kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)
HGVS:
  • NC_000012.12:g.40321114A>G
  • NG_011709.1:g.101104A>G
  • NM_198578.3:c.5096A>G
  • NP_940980.3:p.Tyr1699Cys
  • NC_000012.11:g.40714916A>G
Protein change:
Y1699C; TYR1699CYS
Links:
OMIM: 609007.0002; dbSNP: 35801418
NCBI 1000 Genomes Browser:
rs35801418
Molecular consequence:
  • NM_198578.3:c.5096A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Parkinson disease 8, autosomal dominant (PARK8)
Synonyms:
Parkinson disease 8; Parkinson disease 8, susceptibility to; LRRK2-Related Parkinson Disease
Identifiers:
MedGen: C1846862; Orphanet: 411602; OMIM: 607060
Age of onset:
Adult

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022172OMIMno assertion criteria providedPathogenic
(Aug 1, 2005)
germlineliterature only

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

SCV000056137GeneReviewsno assertion criteria providedpathologic
(Sep 13, 2012)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.

Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, van der Brug M, López de Munain A, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Martí-Massó JF, Pérez-Tur J, Wood NW, Singleton AB.

Neuron. 2004 Nov 18;44(4):595-600.

PubMed [citation]
PMID:
15541308

Genetics of Parkinson's disease.

Gasser T.

Curr Opin Neurol. 2005 Aug;18(4):363-9. Review.

PubMed [citation]
PMID:
16003110
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000022172.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

In 7 affected members of an English family with Parkinson disease (607060), Paisan-Ruiz et al. (2004) identified a heterozygous mutation in the LRRK2 gene that predicts a tyr1654-to-cys substitution. Seven unaffected family members did not have the mutation. The mutation was not identified in 1,300 chromosomes from North American controls and 160 chromosomes from Basque controls.

Gasser (2005) noted that the correct numbering of this mutation is tyr1699-to-cys (Y1699C).

In affected members of a family with autosomal dominant Parkinson disease originally reported by Wszolek et al. (1997), Zimprich et al. (2004) identified heterozygosity for the Y1699C mutation resulting from a 5096A-G transition in the LRRK2 gene.

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

From GeneReviews, SCV000056137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 19, 2016