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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001443409	GenomeConnect - Simons Searchlight	no assertion criteria provided	Likely pathogenic (Mar 3, 2017)	de novo	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443409

GenomeConnect - Simons Searchlight

no assertion criteria provided

Likely pathogenic
(Mar 3, 2017)

de novo

provider interpretation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443409.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not 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.

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

Last Updated: Nov 4, 2023

ClinVar

Relating variation to medicine