U.S. flag

An official website of the United States government

NM_172107.4(KCNQ2):c.439del (p.Ala147fs) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 2021
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:
RCV000636258.8

Allele description [Variation Report for NM_172107.4(KCNQ2):c.439del (p.Ala147fs)]

NM_172107.4(KCNQ2):c.439del (p.Ala147fs)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.4(KCNQ2):c.439del (p.Ala147fs)
HGVS:
  • NC_000020.11:g.63445315del
  • NG_009004.2:g.32328del
  • NM_004518.6:c.439del
  • NM_172106.3:c.439del
  • NM_172107.4:c.439delMANE SELECT
  • NM_172108.5:c.439del
  • NM_172109.3:c.439del
  • NP_004509.2:p.Ala147fs
  • NP_742104.1:p.Ala147fs
  • NP_742105.1:p.Ala147fs
  • NP_742106.1:p.Ala147fs
  • NP_742107.1:p.Ala147fs
  • NC_000020.10:g.62076666del
  • NC_000020.10:g.62076668del
  • NM_172107.2:c.439del
  • NM_172107.2:c.439delG
Protein change:
A147fs
Links:
dbSNP: rs1555873981
NCBI 1000 Genomes Browser:
rs1555873981
Molecular consequence:
  • NM_004518.6:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172106.3:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172107.4:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172108.5:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_172109.3:c.439del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000757697Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 14, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF; BFNC Physician Consortium..

Brain. 2003 Dec;126(Pt 12):2726-37. Epub 2003 Oct 8.

PubMed [citation]
PMID:
14534157

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, SCV000757697.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157). This variant has not been reported in the literature in individuals with KCNQ2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala147Profs*24) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024