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NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) AND Seizures, benign familial neonatal, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000990333.1

Allele description [Variation Report for NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)]

NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)

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.716G>T (p.Gly239Val)
Other names:
p.G239V:GGC>GTC
HGVS:
  • NC_000020.11:g.63442506C>A
  • NG_009004.2:g.35135G>T
  • NM_004518.6:c.716G>T
  • NM_172106.3:c.716G>T
  • NM_172107.4:c.716G>TMANE SELECT
  • NM_172108.5:c.716G>T
  • NM_172109.3:c.716G>T
  • NP_004509.2:p.Gly239Val
  • NP_742104.1:p.Gly239Val
  • NP_742105.1:p.Gly239Val
  • NP_742106.1:p.Gly239Val
  • NP_742107.1:p.Gly239Val
  • NC_000020.10:g.62073859C>A
  • NM_172107.2:c.716G>T
Protein change:
G239V
Links:
dbSNP: rs796052630
NCBI 1000 Genomes Browser:
rs796052630
Molecular consequence:
  • NM_004518.6:c.716G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172106.3:c.716G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172107.4:c.716G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172108.5:c.716G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172109.3:c.716G>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
SCV001141276Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001141276.1

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

Last Updated: May 24, 2022