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NM_172107.4(KCNQ2):c.387+1G>T AND Seizures, benign familial neonatal, 1

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:
RCV000678079.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.387+1G>T]

NM_172107.4(KCNQ2):c.387+1G>T

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.387+1G>T
HGVS:
  • NC_000020.11:g.63446746C>A
  • NG_009004.2:g.30895G>T
  • NM_001382235.1:c.387+1G>T
  • NM_004518.6:c.387+1G>T
  • NM_172106.3:c.387+1G>T
  • NM_172107.4:c.387+1G>TMANE SELECT
  • NM_172108.5:c.387+1G>T
  • NM_172109.3:c.387+1G>T
  • NC_000020.10:g.62078099C>A
  • NM_172107.2:c.387+1G>T
  • p.Leu129?
Links:
dbSNP: rs118192195
NCBI 1000 Genomes Browser:
rs118192195
Molecular consequence:
  • NM_001382235.1:c.387+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004518.6:c.387+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_172106.3:c.387+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_172107.4:c.387+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_172108.5:c.387+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_172109.3:c.387+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Seizures, benign familial neonatal, 1
Synonyms:
Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:
MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041640GeneReviews
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

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

Details of each submission

From GeneReviews, SCV000041640.3

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

Description

BFNE (benign familial neonatal epilepsy)

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

Last Updated: Jun 10, 2023