NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) AND Developmental and epileptic encephalopathy, 7

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jun 23, 2016
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:: RCV000408747.8

Allele description [Variation Report for NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)]

NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)

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.431G>A (p.Arg144Gln)

Other names:

p.R144Q:CGG>CAG; KCNQ2

HGVS:

NC_000020.11:g.63445321C>T
NG_009004.2:g.32320G>A
NM_004518.6:c.431G>A
NM_172106.3:c.431G>A
NM_172107.4:c.431G>AMANE SELECT
NM_172108.5:c.431G>A
NM_172109.3:c.431G>A
NP_004509.2:p.Arg144Gln
NP_742104.1:p.Arg144Gln
NP_742105.1:p.Arg144Gln
NP_742106.1:p.Arg144Gln
NP_742107.1:p.Arg144Gln
NC_000020.10:g.62076674C>T
NM_004518.5:c.431G>A
NM_172107.2:c.431G>A
NM_172107.3:c.431G>A

Protein change:

R144Q

Links:

dbSNP: rs796052618

NCBI 1000 Genomes Browser:

rs796052618

Molecular consequence:

NM_004518.6:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172109.3:c.431G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Moderate decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0086]
Severe hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0031]
Severe slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0015]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 7 (DEE7)
Synonyms:: Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:: MONDO: MONDO:0013387; MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484553	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 23934111, 25740509
SCV000598136	Center of Genomic medicine, Geneva, University Hospital of Geneva	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 23, 2016)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001426583	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 32860008

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000484553

GeneReviews

no classification provided

not provided

germline

literature only

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

SCV000598136

Center of Genomic medicine, Geneva, University Hospital of Geneva

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 23, 2016)

de novo

clinical testing

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

SCV001426583

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

de novo

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

De novo mutations in epileptic encephalopathies.

Epi4K Consortium.; Epilepsy Phenome/Genome Project., Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, et al.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

PubMed [citation]

PMID:: 23934111
PMCID:: PMC3773011

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M.

J Neurosci. 2015 Mar 4;35(9):3782-93. doi: 10.1523/JNEUROSCI.4423-14.2015.

PubMed [citation]

PMID:: 25740509
PMCID:: PMC6605567

See all PubMed Citations (4)

Details of each submission

From GeneReviews, SCV000484553.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Infantile spasms

#	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 Center of Genomic medicine, Geneva, University Hospital of Geneva, SCV000598136.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Centogene AG - the Rare Disease Company, SCV001426583.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Oct 26, 2024

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