NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp) AND Benign familial neonatal seizures 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 18, 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:: RCV000021005.2

Allele description

NM_172107.3(KCNQ2):c.637C>T (p.Arg213Trp)

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_172107.3(KCNQ2):c.637C>T (p.Arg213Trp)

HGVS:

NC_000020.11:g.63444712G>A
NG_009004.2:g.32929C>T
NM_172107.3:c.637C>T
NP_742105.1:p.Arg213Trp
NC_000020.10:g.62076065G>A
NG_009004.1:g.32929C>T
NM_172107.2:c.637C>T
p.R213W:CGG>TGG

Protein change:

R213W

Links:

dbSNP: rs118192203

NCBI 1000 Genomes Browser:

rs118192203

Molecular consequence:

NM_172107.3:c.637C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Benign familial neonatal seizures 1 (BFNS1)
Synonyms:: KCNQ2-Related Disorders; Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:: MedGen: C1852587; Orphanet: 1949; OMIM: 121200
Age of onset:: Neonatal

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000041649	GeneReviews	no assertion criteria provided	pathologic (Apr 27, 2010)	not provided	curation
SCV000230474	Emory Genetics Laboratory,Emory University	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Feb 18, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000041649

GeneReviews

no assertion criteria provided

pathologic
(Apr 27, 2010)

not provided

curation

SCV000230474

Emory Genetics Laboratory,Emory University

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Feb 18, 2015)

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	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From GeneReviews, SCV000041649.1

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

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

From Emory Genetics Laboratory,Emory University, SCV000230474.2

#	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	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jan 13, 2017

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