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NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) AND Seizures, benign familial neonatal, 1

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Sep 20, 2022
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:
RCV000203596.7

Allele description [Variation Report for NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)]

NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)

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.1657C>T (p.Arg553Trp)
Other names:
p.R553W:CGG>TGG
HGVS:
  • NC_000020.11:g.63413556G>A
  • NG_009004.2:g.64085C>T
  • NM_004518.6:c.1573C>T
  • NM_172106.3:c.1603C>T
  • NM_172107.4:c.1657C>TMANE SELECT
  • NM_172108.5:c.1564C>T
  • NP_004509.2:p.Arg525Trp
  • NP_742104.1:p.Arg535Trp
  • NP_742105.1:p.Arg553Trp
  • NP_742106.1:p.Arg522Trp
  • NC_000020.10:g.62044909G>A
  • NM_172107.2:c.1657C>T
  • NM_172107.3:c.1657C>T
Protein change:
R522W
Links:
dbSNP: rs759584387
NCBI 1000 Genomes Browser:
rs759584387
Molecular consequence:
  • NM_004518.6:c.1573C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.1657C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.1564C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000258979NeuroMeGen, Hospital Clinico Santiago de Compostela
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicde novoclinical testing

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

SCV001141270Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(Sep 20, 2022) 		unknownclinical testing

Citation Link,

SCV002570024Center of Excellence for Medical Genomics, Chulalongkorn University
no assertion criteria provided
Pathogenic
(Sep 8, 2002) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing, research
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, et al.

Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26.

PubMed [citation]
PMID:
23621294

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 NeuroMeGen, Hospital Clinico Santiago de Compostela, SCV000258979.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From Mendelics, SCV001141270.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Center of Excellence for Medical Genomics, Chulalongkorn University, SCV002570024.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024