NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) AND Lennox-Gastaut syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 2016
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:: RCV000678856.1

Allele description [Variation Report for NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp)]

NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp)

Gene:

ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp)

HGVS:

NC_000002.12:g.144389829T>G
NG_016431.1:g.135563A>C
NM_001171653.2:c.3195A>C
NM_014795.4:c.3267A>CMANE SELECT
NP_001165124.1:p.Glu1065Asp
NP_055610.1:p.Glu1089Asp
NC_000002.11:g.145147396T>G
NM_014795.3:c.3267A>C

Protein change:

E1065D

Links:

dbSNP: rs1553960775

NCBI 1000 Genomes Browser:

rs1553960775

Molecular consequence:

NM_001171653.2:c.3195A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014795.4:c.3267A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lennox-Gastaut syndrome
Synonyms:: Epileptic encephalopathy Lennox-Gastaut type
Identifiers:: MONDO: MONDO:0016532; MedGen: C0238111

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000805049	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Uncertain significance (Dec 8, 2016)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805049

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Uncertain significance
(Dec 8, 2016)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805049.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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