NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser) AND Epileptic encephalopathy

Clinical significance:Likely pathogenic (Last evaluated: Nov 16, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000417017.1

Allele description

NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.3(KCNQ2):c.873G>T (p.Arg291Ser)
HGVS:
  • NC_000020.11:g.63439652C>A
  • NG_009004.2:g.37989G>T
  • NM_172107.3:c.873G>T
  • NP_742105.1:p.Arg291Ser
  • NC_000020.10:g.62071005C>A
  • NM_172107.2:c.873G>T
Protein change:
R291S
Links:
dbSNP: rs1057519535
NCBI 1000 Genomes Browser:
rs1057519535
Molecular consequence:
  • NM_172107.3:c.873G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494519Neurogenetics Laboratory - MEYER,AOU Meyercriteria provided, single submitter
Likely pathogenic
(Nov 16, 2016)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1noclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neurogenetics Laboratory - MEYER,AOU Meyer, SCV000494519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 27, 2018