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NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 4, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000187887.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)]

NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)

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_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)
Other names:
p.G313W:GGG>TGG
HGVS:
  • NC_000020.11:g.63438711C>A
  • NG_009004.2:g.38930G>T
  • NM_004518.6:c.937G>T
  • NM_172106.3:c.937G>T
  • NM_172107.4:c.937G>TMANE SELECT
  • NM_172108.5:c.937G>T
  • NM_172109.3:c.937G>T
  • NP_004509.2:p.Gly313Trp
  • NP_742104.1:p.Gly313Trp
  • NP_742105.1:p.Gly313Trp
  • NP_742106.1:p.Gly313Trp
  • NP_742107.1:p.Gly313Trp
  • NC_000020.10:g.62070064C>A
  • NM_172107.2:c.937G>T
Protein change:
G313W
Links:
dbSNP: rs796052639
NCBI 1000 Genomes Browser:
rs796052639
Molecular consequence:
  • NM_004518.6:c.937G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.937G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.937G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.937G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.937G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241489GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 4, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241489.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Gly313Trp (GGG>TGG): c.937 G>T in exon 7 of the KCNQ2 gene (NM_172107.2)The Gly313Trp missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative amino acid substitution, as Glycine and Tryptophan are both uncharged, non-polar amino acids. It alters a highly conserved position in the cytoplasmic domain of the protein, and other missense substitutions have been reported in this region of the protein in association with epilepsy. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether Gly313Trp is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024