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NM_001032221.6(STXBP1):c.1702+10C>T AND Developmental and epileptic encephalopathy, 4

Germline classification:
Likely benign (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:
RCV000616011.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1702+10C>T]

NM_001032221.6(STXBP1):c.1702+10C>T

Gene:
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001032221.6(STXBP1):c.1702+10C>T
HGVS:
  • NC_000009.12:g.127682570C>T
  • NG_016623.1:g.75364C>T
  • NM_001032221.6:c.1702+10C>TMANE SELECT
  • NM_001374306.2:c.1693+10C>T
  • NM_001374307.2:c.1660+10C>T
  • NM_001374308.2:c.1660+10C>T
  • NM_001374309.2:c.1660+10C>T
  • NM_001374310.2:c.1660+10C>T
  • NM_001374311.2:c.1660+10C>T
  • NM_001374312.2:c.1660+10C>T
  • NM_001374313.2:c.1702+10C>T
  • NM_001374314.1:c.1707C>T
  • NM_001374315.2:c.1594+10C>T
  • NM_003165.6:c.1702+10C>T
  • NP_001361243.1:p.Pro569=
  • NC_000009.11:g.130444849C>T
  • NM_001032221.3:c.1702+10C>T
  • NM_003165.2:c.1702+10C>T
  • NM_003165.3:c.1702+10C>T
Links:
dbSNP: rs147607230
NCBI 1000 Genomes Browser:
rs147607230
Molecular consequence:
  • NM_001032221.6:c.1702+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374306.2:c.1693+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374307.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374308.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374309.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374310.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374311.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374312.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374313.2:c.1702+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374315.2:c.1594+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003165.6:c.1702+10C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374314.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000734642Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734642.1

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

Last Updated: Oct 20, 2024