NC_000016.10:g.30996672_31010406del AND Generalized epilepsy with febrile seizures plus, type 9

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 7, 2023
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:: RCV003989460.1

Allele description [Variation Report for NC_000016.10:g.30996672_31010406del]

NC_000016.10:g.30996672_31010406del

Genes:: LOC130058887:ATAC-STARR-seq lymphoblastoid silent region 7407 [Gene]
STX1B:syntaxin 1B [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 16p11.2
Genomic location:: Chr16: 30996672 - 31010406 (on Assembly GRCh38)
Preferred name:: NC_000016.10:g.30996672_31010406del
HGVS:: NC_000016.10:g.30996672_31010406del
This HGVS expression did not pass validation

Condition(s)

Name:: Generalized epilepsy with febrile seizures plus, type 9 (GEFSP9)
Synonyms:: GEFS+, TYPE 9
Identifiers:: MONDO: MONDO:0014517; MedGen: C4015395; Orphanet: 36387; OMIM: 616172

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004808334	Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	no assertion criteria provided	Pathogenic (Mar 7, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004808334

Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

no assertion criteria provided

Pathogenic
(Mar 7, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV004808334.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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