NM_003165.6(STXBP1):c.664-1delG AND Developmental and epileptic encephalopathy, 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 9, 2020
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:: RCV001726701.10

Allele description [Variation Report for NM_003165.6(STXBP1):c.664-1delG]

NM_003165.6(STXBP1):c.664-1delG

Gene:

STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_003165.6(STXBP1):c.664-1delG

HGVS:

NC_000009.12:g.127666167del
NG_016623.1:g.58961del
NG_016623.2:g.59257del
NM_003165.6:c.664-1delG
NC_000009.11:g.130428446del

Links:

dbSNP: rs2131472407

NCBI 1000 Genomes Browser:

rs2131472407

Molecular consequence:

NM_003165.6:c.664-1delG - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001961010	Pediatric Department, Xiangya Hospital, Central South University	no assertion criteria provided	Pathogenic (Jan 9, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001961010

Pediatric Department, Xiangya Hospital, Central South University

no assertion criteria provided

Pathogenic
(Jan 9, 2020)

de novo

clinical testing

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	clinical testing

Details of each submission

From Pediatric Department, Xiangya Hospital, Central South University, SCV001961010.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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 3, 2024

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