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NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile) AND Autosomal dominant Parkinson disease 8

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2014
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:
RCV000225502.1

Allele description [Variation Report for NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile)]

NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile)

Gene:
LRRK2:leucine rich repeat kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile)
HGVS:
  • NC_000012.12:g.40253016G>A
  • NG_011709.1:g.33006G>A
  • NM_198578.4:c.1288G>AMANE SELECT
  • NP_940980.4:p.Val430Ile
  • NC_000012.11:g.40646818G>A
  • NP_940980.3:p.V430I
  • NM_198578.3:c.1290G>A
Protein change:
V430I
Links:
dbSNP: rs878853305
NCBI 1000 Genomes Browser:
rs878853305
Molecular consequence:
  • NM_198578.4:c.1288G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant Parkinson disease 8
Synonyms:
Parkinson disease 8; Parkinson disease 8, susceptibility to; LRRK2-Related Parkinson Disease
Identifiers:
MONDO: MONDO:0011764; MedGen: C1846862; Orphanet: 411602; OMIM: 607060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282478GeneReviews
no assertion criteria provided
Uncertain significance
(Dec 11, 2014) 		germlineliterature only

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000282478.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022