NM_003165.3(STXBP1):c.-160_-148dup AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 27, 2018
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:: RCV001558876.11

Allele description [Variation Report for NM_003165.3(STXBP1):c.-160_-148dup]

NM_003165.3(STXBP1):c.-160_-148dup

Genes:

LOC130002651:ATAC-STARR-seq lymphoblastoid silent region 20307 [Gene]
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_003165.3(STXBP1):c.-160_-148dup

HGVS:

NC_000009.12:g.127612244_127612256dup
NG_016623.1:g.5038_5050dup
NG_016623.2:g.5334_5346dup
NG_182097.1:g.347_359dup
NM_001032221.3:c.-160_-148dup
NM_001374309.2:c.-6+197_-6+209dup
NM_003165.3:c.-160_-148dup
NC_000009.11:g.130374523_130374535dup

Links:

dbSNP: rs556763394

NCBI 1000 Genomes Browser:

rs556763394

Molecular consequence:

NM_001374309.2:c.-6+197_-6+209dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Ada Adenosine deaminase [Drosophila melanogaster]
Ada Adenosine deaminase [Drosophila melanogaster]
Gene ID:41092

Gene
41092[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001780908	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 27, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001780908

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 27, 2018)

germline

clinical testing

Citation Link

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 GeneDx, SCV001780908.1

#	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: Jun 2, 2024

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