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NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs) AND Developmental and epileptic encephalopathy, 4

Germline classification:
Pathogenic (1 submission)
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:
RCV001568361.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)]

NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)

Genes:
LOC130002651:ATAC-STARR-seq lymphoblastoid silent region 20307 [Gene]
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)
HGVS:
  • NC_000009.12:g.127612428delinsCT
  • NG_016623.1:g.5222delinsCT
  • NM_001032221.6:c.25delinsCTMANE SELECT
  • NM_001374306.2:c.25delinsCT
  • NM_001374307.2:c.-113delinsCT
  • NM_001374308.2:c.-208delinsCT
  • NM_001374309.2:c.-6+381delinsCT
  • NM_001374310.2:c.-208delinsCT
  • NM_001374311.2:c.-113delinsCT
  • NM_001374312.2:c.-120delinsCT
  • NM_001374313.2:c.25delinsCT
  • NM_001374314.1:c.25delinsCT
  • NM_001374315.2:c.25delinsCT
  • NM_003165.6:c.25delinsCT
  • NP_001027392.1:p.Val9fs
  • NP_001361235.1:p.Val9fs
  • NP_001361242.1:p.Val9fs
  • NP_001361243.1:p.Val9fs
  • NP_001361244.1:p.Val9fs
  • NP_003156.1:p.Val9fs
  • NC_000009.11:g.130374707delinsCT
  • NM_003165.3:c.25delinsCT
Protein change:
V9fs
Links:
dbSNP: rs2132275633
NCBI 1000 Genomes Browser:
rs2132275633
Molecular consequence:
  • NM_001374307.2:c.-113delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374308.2:c.-208delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374310.2:c.-208delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374311.2:c.-113delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374312.2:c.-120delinsCT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001032221.6:c.25delinsCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374306.2:c.25delinsCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374313.2:c.25delinsCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374314.1:c.25delinsCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374315.2:c.25delinsCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003165.6:c.25delinsCT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374309.2:c.-6+381delinsCT - intron variant - [Sequence Ontology: SO:0001627]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001792252Génétique des Maladies du Développement, Hospices Civils de Lyon
no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001792252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024