NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) AND Seizures, benign familial neonatal, 2

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000678092.4

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:
Seizures, benign familial neonatal, 2
Synonyms:
CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; Seizures, benign neonatal, 2; Benign Neonatal Epilepsy 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007366; MedGen: C1852581; Orphanet: 1949; OMIM: 121201

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041655GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 GeneReviews, SCV000041655.3

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

Description

.Identified in a boy with EE (EE (epileptic encephalopathy); mother with BNE (benign neonatal epilepsy) (possible mosaicism; uncertain severity)

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

Last Updated: Sep 29, 2024