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NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) AND Developmental and epileptic encephalopathy, 7

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 3, 2020
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:
RCV001542406.2

Allele description [Variation Report for NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)]

NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)

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.2252C>T (p.Ser751Leu)
HGVS:
  • NC_000020.11:g.63407011G>A
  • NG_009004.2:g.70630C>T
  • NM_004518.6:c.2168C>T
  • NM_172106.3:c.2198C>T
  • NM_172107.4:c.2252C>TMANE SELECT
  • NM_172108.5:c.2159C>T
  • NP_004509.2:p.Ser723Leu
  • NP_742104.1:p.Ser733Leu
  • NP_742105.1:p.Ser751Leu
  • NP_742106.1:p.Ser720Leu
  • NC_000020.10:g.62038364G>A
  • NM_172106.2:c.2198C>T
  • NM_172107.2:c.2252C>T
Protein change:
S720L
Links:
dbSNP: rs774002673
NCBI 1000 Genomes Browser:
rs774002673
Molecular consequence:
  • NM_004518.6:c.2168C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.2198C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.2252C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.2159C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Increase in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0092]
  • Mild hyperpolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0029]
  • Mild slowing of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0013]
Observations:
1

Condition(s)

Name:
Developmental and epileptic encephalopathy, 7 (DEE7)
Synonyms:
Early infantile epileptic encephalopathy 7; KCNQ2-Related Neonatal Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0013387; MedGen: C3150986; Orphanet: 439218; OMIM: 613720

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001761105New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(Jul 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001761105.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024