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

Clinical significance:
Pathogenic
Last evaluated:
May 31, 2017
Number of submission(s):
4
Condition(s):
  • Parkinson disease 8, autosomal dominant [MedGen - OMIM]
See supporting ClinVar records

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 14, 2014)
criteria provided, single submitter
clinical testing
  • Parkinson disease 8, autosomal dominant[MedGen | OMIM]
germline
    Courtagen Diagnostics Laboratory,Courtagen Life SciencesSCV000236518.2
    Pathogenic
    (May 31, 2017)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000329408.4
      Pathogenic
      (Nov 22, 2012)
      no assertion criteria providedliterature only
      • Parkinson disease 8, autosomal dominant[MedGen | OMIM]
      germlineOMIMSCV000022175.2
      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 providednot providedgermline, not providednot providednot provided
      Courtagen Diagnostics Laboratory,Courtagen Life Sciencesnot providednot providedgermlinenot providednot providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe G2019S variant is the most…Full description
      GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Sep 30, 2017