Click here to see the new Variation Report design!

NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser)

Variation ID: Help
1940
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser)

Allele ID:
16979
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
  • Chr12: 40340400 (on Assembly GRCh38)
  • Chr12: 40734202 (on Assembly GRCh37)
Protein change:
G2019S
HGVS:
  • NG_011709.1:g.120390G>A
  • NM_198578.3:c.6055G>A
  • NP_940980.3:p.Gly2019Ser
  • NC_000012.12:g.40340400G>A (GRCh38)
  • NC_000012.11:g.40734202G>A (GRCh37)
  • Q5S007:p.Gly2019Ser
Links:
NCBI 1000 Genomes Browser:
rs34637584
Molecular consequence:
NM_198578.3:c.6055G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00038 (A)
  • GMAF 0.00020 (A)
  • ExAC 0.00039 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(May 31, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000329408.5
    Pathogenic
    (Jan 19, 2017)
    criteria provided, single submitter
    clinical testing
    • Parkinson disease 8, autosomal dominant[MedGen | OMIM]
    germline
      InvitaeSCV000640135.1
      Pathogenic
      (Dec 7, 2017)
      criteria provided, single submitter
      clinical testing
      • Parkinson disease 8, autosomal dominant (Autosomal dominant inheritance)[MedGen | OMIM]
      germline
        Institute of Human Genetics,Klinikum rechts der IsarSCV000680283.1
        Pathogenic
        (Jan 11, 2017)
        criteria provided, single submitter
        clinical testing
        • Inborn genetic diseases[MeSH | MedGen]
        germlineAmbry GeneticsSCV000742130.1
        Pathogenic
        (Nov 22, 2012)
        no assertion criteria providedliterature only
        • Parkinson disease 8, autosomal dominant[MedGen | OMIM]
        germlineOMIMSCV000022175.3
        Pathogenic
        (Sep 13, 2012)
        no assertion criteria providedliterature only
        • Parkinson disease 8, autosomal dominant[MedGen | OMIM]
        not providedGeneReviewsSCV000056154.1
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided3germline, not providedEuropean-originnot provided
        Ambry Geneticsnot provided1germlineEuropean-originnot providedLines of evidence used in supp…Full description
        GeneDxnot providednot providedgermlinenot providednot providednot providedThe G2019S variant is the most…Full description
        GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
        Institute of Human Genetics,Klinikum rechts der Isarnot provided2germlinenot providednot providednot providednot provided
        Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
        OMIMnot providednot providedgermlinenot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Apr 15, 2018