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NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 26, 2022
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:
RCV003047079.3

Allele description [Variation Report for NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val)]

NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val)

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.718T>G (p.Phe240Val)
HGVS:
  • NC_000020.11:g.63442504A>C
  • NG_009004.2:g.35137T>G
  • NM_001382235.1:c.718T>G
  • NM_004518.6:c.718T>G
  • NM_172106.3:c.718T>G
  • NM_172107.4:c.718T>GMANE SELECT
  • NM_172108.5:c.718T>G
  • NM_172109.3:c.718T>G
  • NP_001369164.1:p.Phe240Val
  • NP_004509.2:p.Phe240Val
  • NP_742104.1:p.Phe240Val
  • NP_742105.1:p.Phe240Val
  • NP_742106.1:p.Phe240Val
  • NP_742107.1:p.Phe240Val
  • NC_000020.10:g.62073857A>C
Protein change:
F240V
Molecular consequence:
  • NM_001382235.1:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004518.6:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.718T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003339289Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 26, 2022) 		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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003339289.2

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

Description

This missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ2 protein function. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 240 of the KCNQ2 protein (p.Phe240Val).

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

Last Updated: Sep 29, 2024