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NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) AND Benign Rolandic epilepsy

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:
RCV000678098.5

Allele description [Variation Report for NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)]

NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
Other names:
F304delF
HGVS:
  • NC_000020.11:g.63439611AAG[1]
  • NG_009004.2:g.38026TTC[1]
  • NM_001382235.1:c.910TTC[1]
  • NM_004518.6:c.910TTC[1]
  • NM_172106.3:c.910TTC[1]
  • NM_172107.4:c.910TTC[1]MANE SELECT
  • NM_172107.4:c.913_915delTTC
  • NM_172108.5:c.910TTC[1]
  • NM_172109.3:c.910TTC[1]
  • NP_001369164.1:p.Phe305del
  • NP_004509.2:p.Phe305del
  • NP_742104.1:p.Phe305del
  • NP_742105.1:p.Phe305del
  • NP_742106.1:p.Phe305del
  • NP_742107.1:p.Phe305del
  • NC_000020.10:g.62070963_62070965del
  • NC_000020.10:g.62070963_62070965delGAA
  • NC_000020.10:g.62070964AAG[1]
  • NC_000020.10:g.62070967_62070969delAAG
  • NC_000020.10:g.62070967_62070969delAAG
  • NM_172107.2:c.913_915delTTC
  • NM_172107.3:c.913_915delTTC
  • NM_172107.4:c.913_915delMANE SELECT
  • NM_172107.4:c.913_915delTTCMANE SELECT
  • NM_172109.2:c.913_915del
Protein change:
F305del
Links:
dbSNP: rs118192212
NCBI 1000 Genomes Browser:
rs118192212
Molecular consequence:
  • NM_001382235.1:c.910TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_004518.6:c.910TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_172106.3:c.910TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_172107.4:c.910TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_172108.5:c.910TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_172109.3:c.910TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Functional consequence:
  • Mild slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0013]
  • Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]
  • Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]

Condition(s)

Name:
Benign Rolandic epilepsy (BECTS)
Synonyms:
CENTRALOPATHIC EPILEPSY; BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES; CENTROTEMPORAL EPILEPSY; See all synonyms [MedGen]
Identifiers:
MedGen: C2363129; Orphanet: 1945; OMIM: 117100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000041663GeneReviews
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S.

Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21.

PubMed [citation]
PMID:
18640800

KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.

Ishii A, Miyajima T, Kurahashi H, Wang JW, Yasumoto S, Kaneko S, Hirose S.

Epilepsy Res. 2012 Nov;102(1-2):122-5. doi: 10.1016/j.eplepsyres.2012.07.011. Epub 2012 Aug 10.

PubMed [citation]
PMID:
22884718

Details of each submission

From GeneReviews, SCV000041663.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

BECTS (benign childhood epilepsy with centrotemporal spikes)

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

Last Updated: Apr 28, 2025