NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) AND developmental encephalopathy with epilepsy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2019
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:: RCV001249560.4

Allele description [Variation Report for NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)]

NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)

Gene:

KCNB1:potassium voltage-gated channel subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.13

Genomic location:

Preferred name:

NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)

HGVS:

NC_000020.11:g.49374644G>A
NG_041781.2:g.113001C>T
NM_004975.4:c.916C>TMANE SELECT
NP_004966.1:p.Arg306Cys
NC_000020.10:g.47991181G>A
NM_004975.2:c.916C>T
NM_004975.3:c.916C>T

Protein change:

R306C

Links:

dbSNP: rs1555889130

NCBI 1000 Genomes Browser:

rs1555889130

Molecular consequence:

NM_004975.4:c.916C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Severe decrease in peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0087]

Condition(s)

Name:: developmental encephalopathy with epilepsy
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423128	Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades	no assertion criteria provided	Pathogenic (Dec 1, 2019)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001423128

Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades

no assertion criteria provided

Pathogenic
(Dec 1, 2019)

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades, SCV001423128.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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