NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) AND Developmental and epileptic encephalopathy, 7

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 16, 2021
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:: RCV001030036.7

Allele description [Variation Report for NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)]

NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)

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.587C>T (p.Ala196Val)

HGVS:

NC_000020.11:g.63444762G>A
NG_009004.2:g.32879C>T
NM_004518.6:c.587C>T
NM_172106.3:c.587C>T
NM_172107.4:c.587C>TMANE SELECT
NM_172108.5:c.587C>T
NM_172109.3:c.587C>T
NP_004509.2:p.Ala196Val
NP_742104.1:p.Ala196Val
NP_742105.1:p.Ala196Val
NP_742106.1:p.Ala196Val
NP_742107.1:p.Ala196Val
NC_000020.10:g.62076115G>A
NM_172107.2:c.587C>T
NM_172107.3:c.587C>T

Protein change:

A196V

Links:

dbSNP: rs118192199

NCBI 1000 Genomes Browser:

rs118192199

Molecular consequence:

NM_004518.6:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172106.3:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172107.4:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172108.5:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_172109.3:c.587C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Mild decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0085]
Normal rate of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0011]
Severe depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0026]

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
SCV001190554	Center for Molecular Medicine, Children’s Hospital of Fudan University	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 10, 2019)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001911527	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 16, 2021)	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

SCV001190554

Center for Molecular Medicine, Children’s Hospital of Fudan University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 10, 2019)

de novo

clinical testing

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

SCV001911527

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 16, 2021)

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	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	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 Center for Molecular Medicine, Children’s Hospital of Fudan University, SCV001190554.1

#	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 Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001911527.1

#	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: Nov 24, 2024

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