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NM_003895.3(SYNJ1):c.3548G>A (p.Gly1183Asp)

Variation ID: Help
478343
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Mar 13, 2017
Number of submission(s):
1
Condition(s):
  • Parkinson disease 20, early-onset [MedGen - OMIM]
  • Epileptic encephalopathy, early infantile, 53 [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003895.3(SYNJ1):c.3548G>A (p.Gly1183Asp)

Allele ID:
469562
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
  • Chr21: 32643457 (on Assembly GRCh38)
  • Chr21: 34015767 (on Assembly GRCh37)
Protein change:
G1183D
HGVS:
  • NG_030017.1:g.89585G>A
  • NM_001160302.1:c.3431-1324G>A
  • NM_003895.3:c.3548G>A
  • NM_203446.2:c.3548G>A
  • NP_003886.3:p.Gly1183Asp
  • NP_982271.2:p.Gly1183Asp
  • NC_000021.9:g.32643457C>T (GRCh38)
  • NC_000021.8:g.34015767C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs142964720
Molecular consequence:
  • NM_001160302.1:c.3431-1324G>A: intron variant SO:0001627
  • NM_203446.2:c.3548G>A: missense variant SO:0001583
Allele frequency:
  • 1000 Genomes Project 0.00040 (T)
  • 1000 Genomes Project 0.00040
  • Exome Aggregation Consortium (ExAC) 0.00016
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
  • The Genome Aggregation Database (gnomAD) 0.00045
  • The Genome Aggregation Database (gnomAD), exomes 0.00009
  • Trans-Omics for Precision Medicine (TOPMed) 0.00051

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Mar 13, 2017)
criteria provided, single submitter
clinical testing
  • Parkinson disease 20, early-onset[MedGen | OMIM]
  • Epileptic encephalopathy, early infantile, 53[MedGen | OMIM]
germline
    InvitaeSCV000660143.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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