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NM_172107.4(KCNQ2):c.388-2A>G AND Seizures, benign familial neonatal, 1

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001843826.1

Allele description

NM_172107.4(KCNQ2):c.388-2A>G

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.388-2A>G
HGVS:
  • NC_000020.11:g.63445366T>C
  • NG_009004.2:g.32275A>G
  • NM_001382235.1:c.388-2A>G
  • NM_004518.6:c.388-2A>G
  • NM_172106.3:c.388-2A>G
  • NM_172107.4:c.388-2A>GMANE SELECT
  • NM_172108.5:c.388-2A>G
  • NM_172109.3:c.388-2A>G
  • NC_000020.10:g.62076719T>C
  • NM_172107.2:c.388-2A>G
Links:
dbSNP: rs2145779858
NCBI 1000 Genomes Browser:
rs2145779858
Molecular consequence:
  • NM_001382235.1:c.388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004518.6:c.388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_172106.3:c.388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_172107.4:c.388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_172108.5:c.388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_172109.3:c.388-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002102977Génétique des Maladies du Développement, Hospices Civils de Lyon
no assertion criteria provided
Likely pathogenicunknownclinical testing

Summary from all submissions

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

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV002102977.1

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

Last Updated: Feb 20, 2024