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NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000819097.12

Allele description [Variation Report for NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)]

NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)

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.703C>T (p.Arg235Ter)
Other names:
p.R235*:CGA>TGA
HGVS:
  • NC_000009.12:g.127666205C>T
  • NG_016623.1:g.58999C>T
  • NM_001032221.6:c.703C>TMANE SELECT
  • NM_001374306.2:c.694C>T
  • NM_001374307.2:c.661C>T
  • NM_001374308.2:c.661C>T
  • NM_001374309.2:c.661C>T
  • NM_001374310.2:c.661C>T
  • NM_001374311.2:c.661C>T
  • NM_001374312.2:c.661C>T
  • NM_001374313.2:c.703C>T
  • NM_001374314.1:c.703C>T
  • NM_001374315.2:c.703C>T
  • NM_003165.6:c.703C>T
  • NP_001027392.1:p.Arg235Ter
  • NP_001361235.1:p.Arg232Ter
  • NP_001361236.1:p.Arg221Ter
  • NP_001361237.1:p.Arg221Ter
  • NP_001361238.1:p.Arg221Ter
  • NP_001361239.1:p.Arg221Ter
  • NP_001361240.1:p.Arg221Ter
  • NP_001361241.1:p.Arg221Ter
  • NP_001361242.1:p.Arg235Ter
  • NP_001361243.1:p.Arg235Ter
  • NP_001361244.1:p.Arg235Ter
  • NP_003156.1:p.Arg235Ter
  • NP_003156.1:p.Arg235Ter
  • NC_000009.11:g.130428484C>T
  • NM_003165.3:c.703C>T
  • NM_003165.3:c.[703C>T]
Protein change:
R221*
Links:
dbSNP: rs796053359
NCBI 1000 Genomes Browser:
rs796053359
Molecular consequence:
  • NM_001032221.6:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374306.2:c.694C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374307.2:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374308.2:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374309.2:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374310.2:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374311.2:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374312.2:c.661C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374313.2:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374314.1:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374315.2:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003165.6:c.703C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000959740Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 6, 2023) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N.

Epilepsia. 2010 Dec;51(12):2397-405. doi: 10.1111/j.1528-1167.2010.02728.x. Epub 2010 Sep 30.

PubMed [citation]
PMID:
20887364

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.

Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K.

Brain Dev. 2016 Mar;38(3):280-4. doi: 10.1016/j.braindev.2015.09.004. Epub 2015 Sep 16.

PubMed [citation]
PMID:
26384463
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV000959740.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Arg235*) in the STXBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with epileptic encephalopathy and/or infantile spasms (PMID: 23934111, 25497044, 29186148). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 207422). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Apr 6, 2024