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NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) AND Infantile epilepsy syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 15, 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:
RCV001265420.3

Allele description [Variation Report for NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)]

NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)

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.874C>T (p.Arg292Cys)
Other names:
p.R292C:CGC>TGC; NP_003156.1:p.(Arg292Cys)
HGVS:
  • NC_000009.12:g.127668159C>T
  • NG_016623.1:g.60953C>T
  • NM_001032221.6:c.874C>TMANE SELECT
  • NM_001374306.2:c.865C>T
  • NM_001374307.2:c.832C>T
  • NM_001374308.2:c.832C>T
  • NM_001374309.2:c.832C>T
  • NM_001374310.2:c.832C>T
  • NM_001374311.2:c.832C>T
  • NM_001374312.2:c.832C>T
  • NM_001374313.2:c.874C>T
  • NM_001374314.1:c.874C>T
  • NM_001374315.2:c.795-1739C>T
  • NM_003165.6:c.874C>T
  • NP_001027392.1:p.Arg292Cys
  • NP_001361235.1:p.Arg289Cys
  • NP_001361236.1:p.Arg278Cys
  • NP_001361237.1:p.Arg278Cys
  • NP_001361238.1:p.Arg278Cys
  • NP_001361239.1:p.Arg278Cys
  • NP_001361240.1:p.Arg278Cys
  • NP_001361241.1:p.Arg278Cys
  • NP_001361242.1:p.Arg292Cys
  • NP_001361243.1:p.Arg292Cys
  • NP_003156.1:p.Arg292Cys
  • NC_000009.11:g.130430438C>T
  • NM_001032221.3:c.874C>T
  • NM_003165.2:c.874C>T
  • NM_003165.3:c.874C>T
  • NM_003165.5:c.874C>T
Protein change:
R278C
Links:
dbSNP: rs786205598
NCBI 1000 Genomes Browser:
rs786205598
Molecular consequence:
  • NM_001374315.2:c.795-1739C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001032221.6:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374307.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374308.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374309.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374310.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374311.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374312.2:c.832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infantile epilepsy syndrome
Identifiers:
MONDO: MONDO:0020071; MedGen: C5681523

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443546GenomeConnect - Simons Searchlight
no assertion criteria provided
Pathogenic
(Apr 15, 2019) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not providednot provided2not providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedprovider interpretationnot provided
2not provided1not providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-04-15 and interpreted as Pathogenic. The reporting laboratory might also submit to ClinVar. This variant was identified in multiple probands enrolled in Simons Searchlight.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided
2de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024