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NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) AND Seizures, benign familial neonatal, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000020972.12

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)]

NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp)

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.1545G>C (p.Glu515Asp)
Other names:
p.E515D:GAG>GAC
HGVS:
  • NC_000020.11:g.63414174C>G
  • NG_009004.2:g.63467G>C
  • NM_004518.6:c.1461G>C
  • NM_172106.3:c.1491G>C
  • NM_172107.4:c.1545G>CMANE SELECT
  • NM_172108.5:c.1452G>C
  • NP_004509.2:p.Glu487Asp
  • NP_742104.1:p.Glu497Asp
  • NP_742105.1:p.Glu515Asp
  • NP_742106.1:p.Glu484Asp
  • NC_000020.10:g.62045527C>G
  • NM_172107.2:c.1545G>C
Protein change:
E484D
Links:
dbSNP: rs117067974
NCBI 1000 Genomes Browser:
rs117067974
Molecular consequence:
  • NM_004518.6:c.1461G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1491G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1545G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1452G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
  • Normal rate of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0011]
  • Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]

Condition(s)

Name:
Seizures, benign familial neonatal, 1
Synonyms:
Benign Neonatal Epilepsy 1; KCNQ2-Related Benign Familial Neonatal Epilepsy
Identifiers:
MONDO: MONDO:0007365; MedGen: C3149074; Orphanet: 1949; OMIM: 121200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267377Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 18, 2016) 		germlinereference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
East Asiangermlineunknown8not providednot providednot providednot providedreference population

Citations

PubMed

Benign familial neonatal convulsions: novel mutation in a newborn.

Lee IC, Chen JY, Chen YJ, Yu JS, Su PH.

Pediatr Neurol. 2009 May;40(5):387-91. doi: 10.1016/j.pediatrneurol.2008.12.004.

PubMed [citation]
PMID:
19380078

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 Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267377.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian8not providednot providedreference population PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

Last Updated: May 19, 2024