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NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) AND KCNQ2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 22, 2023
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:
RCV004528127.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)]

NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)

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.587C>T (p.Ala196Val)
HGVS:
  • NC_000020.11:g.63444762G>A
  • NG_009004.2:g.32879C>T
  • NM_004518.6:c.587C>T
  • NM_172106.3:c.587C>T
  • NM_172107.4:c.587C>TMANE SELECT
  • NM_172108.5:c.587C>T
  • NM_172109.3:c.587C>T
  • NP_004509.2:p.Ala196Val
  • NP_742104.1:p.Ala196Val
  • NP_742105.1:p.Ala196Val
  • NP_742106.1:p.Ala196Val
  • NP_742107.1:p.Ala196Val
  • NC_000020.10:g.62076115G>A
  • NM_172107.2:c.587C>T
  • NM_172107.3:c.587C>T
Protein change:
A196V
Links:
dbSNP: rs118192199
NCBI 1000 Genomes Browser:
rs118192199
Molecular consequence:
  • NM_004518.6:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Mild decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0085]
  • Normal rate of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0011]
  • Severe depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0026]

Condition(s)

Name:
KCNQ2-related disorder
Synonyms:
KCNQ2-Related Disorders; KCNQ2-related condition
Identifiers:
MedGen: CN169299

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004111964PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 22, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 PreventionGenetics, part of Exact Sciences, SCV004111964.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The KCNQ2 c.587C>T variant is predicted to result in the amino acid substitution p.Ala196Val. This variant has been reported in multiple individuals with KCNQ2 related disorders (Zara et al. 2013. PubMed ID: 23360469; Carvill et al. 2013. PubMed ID: 23708187; Bennett et al. 2017. PubMed ID: 28717674). It has been documented as a de novo finding, and functional studies support its pathogenicity (Soldovieri et al. 2007. PubMed ID: 17475800; Wang et al. 2020. PubMed ID: 32411386; Jiang et al. 2021. PubMed ID: 34489640). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.

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

Last Updated: Nov 24, 2024