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NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) AND Developmental and epileptic encephalopathy, 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2003
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000030664.6

Allele description [Variation Report for NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)]

NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)

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.740C>G (p.Ser247Trp)
HGVS:
  • NC_000020.11:g.63442482G>C
  • NG_009004.2:g.35159C>G
  • NM_004518.6:c.740C>G
  • NM_172106.3:c.740C>G
  • NM_172107.4:c.740C>GMANE SELECT
  • NM_172108.5:c.740C>G
  • NM_172109.3:c.740C>G
  • NP_004509.2:p.Ser247Trp
  • NP_742104.1:p.Ser247Trp
  • NP_742105.1:p.Ser247Trp
  • NP_742106.1:p.Ser247Trp
  • NP_742107.1:p.Ser247Trp
  • NC_000020.10:g.62073835G>C
  • NM_172107.2:c.740C>G
  • O43526:p.Ser247Trp
Protein change:
S247W; SER247TRP
Links:
UniProtKB: O43526#VAR_026991; OMIM: 602235.0008; dbSNP: rs74315392
NCBI 1000 Genomes Browser:
rs74315392
Molecular consequence:
  • NM_004518.6:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.740C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 7 (DEE7)
Synonyms:
Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0013387; MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028017OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2003) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

Dedek K, Fusco L, Teloy N, Steinlein OK.

Epilepsy Res. 2003 Apr;54(1):21-7.

PubMed [citation]
PMID:
12742592

Details of each submission

From OMIM, SCV000028017.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a boy with developmental and epileptic encephalopathy-7 (DEE7; 613720), Dedek et al. (2003) identified a heterozygous C-to-G transversion in exon 5 of the KCNQ2 gene, resulting in a ser247-to-trp (S247W) substitution in the fifth transmembrane residue of the protein. The mutation was not identified in 202 control chromosomes. Functional expression studies showed that the S247W mutation reduced channel currents by more than 50% in homomeric KCNQ2 channels. The mutation was inherited from his mother, who had a milder phenotype with resolution of seizures in infancy and subsequent normal development. The son had onset of seizures at day 3 of life and the mother at age 1 month. Dedek et al. (2003) emphasized that some KCNQ2 mutations may be associated with a more severe phenotype than is typical for BFNS.

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

Last Updated: Sep 29, 2024