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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 26, 2015
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:: RCV000194164.7

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:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000247668	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 26, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000247668

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 26, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000247668.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 28, 2025

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