NG_008842.2:g.32466A>G AND Hereditary Essential Tremor

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000327367.1

Allele description

NM_000796.5:c.51A>G

Gene:
DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q13.31
Genomic location:
Preferred name:
NM_000796.5:c.51A>G
HGVS:
  • NC_000003.12:g.114171942T>C
  • NG_008842.2:g.32466A>G
  • NM_000796.5:c.51A>G
  • NP_000787.2:p.Ala17=
  • NC_000003.11:g.113890789T>C
  • NM_000796.3:c.51A>G
Links:
dbSNP: rs3732783
GMAF:
0.0978(C), 3732783
NCBI 1000 Genomes Browser:
rs3732783
Allele Frequency:
0.10357(C)
Molecular consequence:
  • NM_000796.5:c.51A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary Essential Tremor
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000439838Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
    Likely benign
    (Jun 14, 2016)
    germlineclinical testing

    ICSL_Variant_Classification_20161018.pdf

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Illumina Clinical Services Laboratory,Illumina, SCV000439838.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 6, 2016