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 [Variation Report for NM_172107.4(KCNQ2):c.388-2A>G]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002102977	Génétique des Maladies du Développement, Hospices Civils de Lyon	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002102977

Génétique des Maladies du Développement, Hospices Civils de Lyon

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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