NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 5, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000414259.31

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]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491167	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 5, 2022)	germline	clinical testing	Citation Link,
SCV001247382	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Sep 1, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491167

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 5, 2022)

germline

clinical testing

Citation Link,

SCV001247382

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Sep 1, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000491167.4

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

Description

Published functional studies demonstrate a damaging effect and significant impairment of potassium channel function (Ishii et al., 2009); Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; Lost residue is predicted to be within the transmembrane segment S6; This variant is associated with the following publications: (PMID: 20437616, 18640800, 27602407, 28554332, 28728838, 32214227, 35401395)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001247382.29

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

#	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		1	not provided	not provided	not provided

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine