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NM_020708.4(SLC12A5):c.2840C>G (p.Ala947Gly)

Variation ID: Help
445720
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_020708.4(SLC12A5):c.2840C>G (p.Ala947Gly)

Allele ID:
438992
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
  • Chr20: 46056202 (on Assembly GRCh38)
  • Chr20: 44684841 (on Assembly GRCh37)
Protein change:
A970G, A947G
HGVS:
  • NG_046341.1:g.39513C>G
  • NM_001134771.1:c.2909C>G
  • NM_020708.4:c.2840C>G
  • NP_001128243.1:p.Ala970Gly
  • NP_065759.1:p.Ala947Gly
  • NC_000020.11:g.46056202C>G (GRCh38)
  • NC_000020.10:g.44684841C>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs199934904
Molecular consequence:
NM_001134771.1:c.2909C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (G)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00009
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
  • The Genome Aggregation Database (gnomAD) 0.00013
  • The Genome Aggregation Database (gnomAD), exomes 0.00019
  • Trans-Omics for Precision Medicine (TOPMed) 0.00001

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
(May 11, 2017)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000610362.1
    Uncertain significance
    (Apr 17, 2018)
    criteria provided, single submitter
    clinical testing
    • Early infantile epileptic encephalopathy 34[MedGen | OMIM]
    germlineInvitaeSCV000827380.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
    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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