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NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp) AND Developmental and epileptic encephalopathy, 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2008
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:
RCV000007121.4

Allele description [Variation Report for NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)]

NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)
HGVS:
  • NC_000009.12:g.127660034T>A
  • NG_016623.1:g.52828T>A
  • NM_001032221.6:c.251T>AMANE SELECT
  • NM_001374306.2:c.251T>A
  • NM_001374307.2:c.209T>A
  • NM_001374308.2:c.209T>A
  • NM_001374309.2:c.209T>A
  • NM_001374310.2:c.209T>A
  • NM_001374311.2:c.209T>A
  • NM_001374312.2:c.209T>A
  • NM_001374313.2:c.251T>A
  • NM_001374314.1:c.251T>A
  • NM_001374315.2:c.251T>A
  • NM_003165.6:c.251T>A
  • NP_001027392.1:p.Val84Asp
  • NP_001361235.1:p.Val84Asp
  • NP_001361236.1:p.Val70Asp
  • NP_001361237.1:p.Val70Asp
  • NP_001361238.1:p.Val70Asp
  • NP_001361239.1:p.Val70Asp
  • NP_001361240.1:p.Val70Asp
  • NP_001361241.1:p.Val70Asp
  • NP_001361242.1:p.Val84Asp
  • NP_001361243.1:p.Val84Asp
  • NP_001361244.1:p.Val84Asp
  • NP_003156.1:p.Val84Asp
  • NC_000009.11:g.130422313T>A
  • P61764:p.Val84Asp
Protein change:
V70D; VAL84ASP
Links:
UniProtKB: P61764#VAR_046205; OMIM: 602926.0004; dbSNP: rs121918320
NCBI 1000 Genomes Browser:
rs121918320
Molecular consequence:
  • NM_001032221.6:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374307.2:c.209T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374308.2:c.209T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374309.2:c.209T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374310.2:c.209T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374311.2:c.209T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374312.2:c.209T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374315.2:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.251T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 4 (DEE4)
Synonyms:
Early infantile epileptic encephalopathy 4; STXBP1-Related Epileptic Encephalopathy
Identifiers:
MONDO: MONDO:0012812; MedGen: C2677326; Orphanet: 1934; Orphanet: 33069; OMIM: 612164

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027317OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N.

Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11.

PubMed [citation]
PMID:
18469812

Details of each submission

From OMIM, SCV000027317.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Japanese boy (patient 11) with developmental and epileptic encephalopathy-4 (DEE4; 612164), Saitsu et al. (2008) identified a de novo heterozygous c.251T-A transversion in the STXBP1 gene, resulting in a val84-to-asp (V84D) substitution. The patient developed tonic seizures at age 2 months with suppression-burst pattern and hypsarrhythmia, and later showed profound mental retardation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023