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NM_001032221.6(STXBP1):c.87+19T>C AND Developmental and epileptic encephalopathy, 4

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 9, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003619151.1

Allele description [Variation Report for NM_001032221.6(STXBP1):c.87+19T>C]

NM_001032221.6(STXBP1):c.87+19T>C

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.87+19T>C
HGVS:
  • NC_000009.12:g.127651671T>C
  • NG_016623.1:g.44465T>C
  • NG_016623.2:g.44761T>C
  • NM_001032221.6:c.87+19T>CMANE SELECT
  • NM_001374306.2:c.87+19T>C
  • NM_001374307.2:c.45+19T>C
  • NM_001374308.2:c.45+19T>C
  • NM_001374309.2:c.45+19T>C
  • NM_001374310.2:c.45+19T>C
  • NM_001374311.2:c.45+19T>C
  • NM_001374312.2:c.45+19T>C
  • NM_001374313.2:c.87+19T>C
  • NM_001374314.1:c.87+19T>C
  • NM_001374315.2:c.87+19T>C
  • NM_003165.6:c.87+19T>C
  • NC_000009.11:g.130413950T>C
Molecular consequence:
  • NM_001032221.6:c.87+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374306.2:c.87+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374307.2:c.45+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374308.2:c.45+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374309.2:c.45+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374310.2:c.45+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374311.2:c.45+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374312.2:c.45+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374313.2:c.87+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374314.1:c.87+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374315.2:c.87+19T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003165.6:c.87+19T>C - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004564541ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Likely benign
(Oct 9, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564541.1

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

Last Updated: Feb 28, 2024