U.S. flag

An official website of the United States government

NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup) AND Infantile epilepsy syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 3, 2017
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:
RCV001265292.1

Allele description [Variation Report for NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)]

NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)
HGVS:
  • NC_000009.12:g.127666192_127666194dup
  • NG_016623.1:g.58986_58988dup
  • NM_001032221.6:c.690_692dupMANE SELECT
  • NM_001374306.2:c.681_683dup
  • NM_001374307.2:c.648_650dup
  • NM_001374308.2:c.648_650dup
  • NM_001374309.2:c.648_650dup
  • NM_001374310.2:c.648_650dup
  • NM_001374311.2:c.648_650dup
  • NM_001374312.2:c.648_650dup
  • NM_001374313.2:c.690_692dup
  • NM_001374314.1:c.690_692dup
  • NM_001374315.2:c.690_692dup
  • NM_003165.6:c.690_692dup
  • NP_001027392.1:p.Leu231dup
  • NP_001361235.1:p.Leu228dup
  • NP_001361236.1:p.Leu217dup
  • NP_001361237.1:p.Leu217dup
  • NP_001361238.1:p.Leu217dup
  • NP_001361239.1:p.Leu217dup
  • NP_001361240.1:p.Leu217dup
  • NP_001361241.1:p.Leu217dup
  • NP_001361242.1:p.Leu231dup
  • NP_001361243.1:p.Leu231dup
  • NP_001361244.1:p.Leu231dup
  • NP_003156.1:p.Leu231dup
  • NC_000009.11:g.130428471_130428473dup
  • NM_003165.3:c.690_692dup
Links:
dbSNP: rs1841284648
NCBI 1000 Genomes Browser:
rs1841284648
Molecular consequence:
  • NM_001032221.6:c.690_692dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374306.2:c.681_683dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374307.2:c.648_650dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374308.2:c.648_650dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374309.2:c.648_650dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374310.2:c.648_650dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374311.2:c.648_650dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374312.2:c.648_650dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374313.2:c.690_692dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374314.1:c.690_692dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001374315.2:c.690_692dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_003165.6:c.690_692dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443409GenomeConnect - Simons Searchlight
no assertion criteria provided
Likely pathogenic
(Mar 3, 2017) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443409.1

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

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-03-03 and interpreted as Likely Pathogenic. Variant was initially reported on 2015-04-07 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 4, 2023