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NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg)

Variation ID: Help
198284
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Pathogenic(2);Uncertain significance(1)
Last evaluated:
Feb 16, 2018
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_172107.3(KCNQ2):c.841G>A (p.Gly281Arg)

Allele ID:
195445
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
  • Chr20: 63439684 (on Assembly GRCh38)
  • Chr20: 62071037 (on Assembly GRCh37)
Other names:
  • p.G281R:GGG>AGG
Protein change:
G281R
HGVS:
  • NG_009004.2:g.37957G>A
  • NM_172107.3:c.841G>A
  • NP_742105.1:p.Gly281Arg
  • NC_000020.11:g.63439684C>T (GRCh38)
  • NC_000020.10:g.62071037C>T (GRCh37)
  • NM_172107.2:c.841G>A
Links:
NCBI 1000 Genomes Browser:
rs794727813
Molecular consequence:
NM_172107.3:c.841G>A: missense variant [Sequence Ontology SO:0001583]

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
(Jun 6, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000231822.5
Pathogenic
(Feb 16, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000241482.11
    Pathogenic
    (Mar 31, 2016)
    no assertion criteria providedliterature onlygermlineGeneReviewsSCV000484584.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germlinenot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot providedThe G281R pathogenic variant i…Full description
    GeneReviewsnot providednot providedgermlinenot providednot providedEE (epileptic encephalopathy)…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 19, 2019

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