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NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 27, 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:
RCV000187874.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn)]

NM_172107.4(KCNQ2):c.790T>A (p.Tyr264Asn)

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.790T>A (p.Tyr264Asn)
Other names:
p.Y264N:TAC>AAC
HGVS:
  • NC_000020.11:g.63442432A>T
  • NG_009004.2:g.35209T>A
  • NM_004518.6:c.790T>A
  • NM_172106.3:c.790T>A
  • NM_172107.4:c.790T>AMANE SELECT
  • NM_172108.5:c.790T>A
  • NM_172109.3:c.790T>A
  • NP_004509.2:p.Tyr264Asn
  • NP_742104.1:p.Tyr264Asn
  • NP_742105.1:p.Tyr264Asn
  • NP_742106.1:p.Tyr264Asn
  • NP_742107.1:p.Tyr264Asn
  • NC_000020.10:g.62073785A>T
  • NM_172107.2:c.790T>A
Protein change:
Y264N
Links:
dbSNP: rs796052632
NCBI 1000 Genomes Browser:
rs796052632
Molecular consequence:
  • NM_004518.6:c.790T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.790T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.790T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.790T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.790T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241474GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Sep 27, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000241474.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Tyr264Asn (TAC>AAC): c.790 T>A in exon 5 of the KCNQ2 gene (NM_172107.2) A Y264N variant that is likely pathogenic has been identified in the KCNQ2 gene. The Y264N variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y264N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position between transmembrane domains 5 and 6 that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in an adjacent residue (A265P, A265V, A265T) have been reported in association with infantile and early onset epileptic encephalopathy, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in INFANT-EPI panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022