NM_172107.3(KCNQ2):c.1054T>C (p.Ser352Pro) AND Benign familial neonatal seizures 1

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 31, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000408704.1

Allele description

NM_172107.3(KCNQ2):c.1054T>C (p.Ser352Pro)

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.1054T>C (p.Ser352Pro)

HGVS:

NC_000020.11:g.63433873A>G
NG_009004.2:g.43768T>C
NM_172107.3:c.1054T>C
NP_742105.1:p.Ser352Pro
NC_000020.10:g.62065226A>G
NM_172107.2:c.1054T>C

Protein change:

S352P

Links:

dbSNP: rs1057516108

NCBI 1000 Genomes Browser:

rs1057516108

Molecular consequence:

NM_172107.3:c.1054T>C - missense variant - [Sequence Ontology: SO:0001583]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000484606	GeneReviews	no assertion criteria provided	Pathogenic (Mar 31, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000484606

GeneReviews

no assertion criteria provided

Pathogenic
(Mar 31, 2016)

germline

literature only

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

Citation Link

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	literature only

Citations

PubMed

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

Grinton BE, Heron SE, Pelekanos JT, Zuberi SM, Kivity S, Afawi Z, Williams TC, Casalaz DM, Yendle S, Linder I, Lev D, Lerman-Sagie T, Malone S, Bassan H, Goldberg-Stern H, Stanley T, Hayman M, Calvert S, Korczyn AD, Shevell M, Scheffer IE, Mulley JC, et al.

Epilepsia. 2015 Jul;56(7):1071-80. doi: 10.1111/epi.13020. Epub 2015 May 15.

PubMed [citation]

PMID:: 25982755

Details of each submission

From GeneReviews, SCV000484606.1

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

Description

BFNE (benign familial neonatal epilepsy)

#	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: May 26, 2018

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