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NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) AND Seizures, benign familial neonatal, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 10, 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:
RCV000990332.4

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:
Seizures, benign familial neonatal, 1
Synonyms:
Seizures, benign neonatal, 1; 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
SCV001141275Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(Nov 10, 2021) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141275.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 28, 2025