NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) AND Early infantile epileptic encephalopathy 4

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 9, 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:: RCV000007122.2

Allele description

NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter)

Gene:

STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter)

Other names:

p.R388*:CGA>TGA

HGVS:

NC_000009.12:g.127675855C>T
NG_016623.1:g.68649C>T
NM_001032221.4:c.1162C>T
NM_003165.4:c.1162C>T
NP_001027392.1:p.Arg388Ter
NP_003156.1:p.Arg388Ter
NP_003156.1:p.Arg388Ter
NC_000009.11:g.130438134C>T
NM_001032221.2:c.1162C>T
NM_003165.3:c.1162C>T

Protein change:

R388*; ARG388TER

Links:

OMIM: 602926.0005; dbSNP: rs121918321

NCBI 1000 Genomes Browser:

rs121918321

Molecular consequence:

NM_001032221.4:c.1162C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003165.4:c.1162C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Early infantile epileptic encephalopathy 4 (EIEE4)
Synonyms:: STXBP1-Related Epileptic Encephalopathy
Identifiers:: MONDO: MONDO:0012812; MedGen: C2677326; Orphanet: 1934; Orphanet: 33069; OMIM: 612164

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027318	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000494040	GeneReviews	no assertion criteria provided	Pathogenic (Sep 9, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 19557857, 26514728 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027318

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2009)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000494040

GeneReviews

no assertion criteria provided

Pathogenic
(Sep 9, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Côté M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, Lafrenière RG, Lacaille JC, Rouleau GA, Michaud JL.

Ann Neurol. 2009 Jun;65(6):748-53. doi: 10.1002/ana.21625.

PubMed [citation]

PMID:: 19557857

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, et al.

Epilepsia. 2015 Dec;56(12):1931-40. doi: 10.1111/epi.13214. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26514728

Details of each submission

From OMIM, SCV000027318.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a French Canadian patient with EIEE4 (612164), Hamdan et al. (2009) identified a de novo heterozygous 1162C-T transition in exon 14 of the STXBP1 gene, resulting in an arg388-to-ter (R388X) substitution, predicted to truncate the domain-3 region, which together with domain-1 provides a binding surface for syntaxin-1 (186590). The patient had severe mental retardation, with hypotonia, abnormal gait, tremor, and seizures.

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

From GeneReviews, SCV000494040.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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: Aug 10, 2020

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