NM_001032221.6(STXBP1):c.1702+1G>A AND STXBP1-associated neurodevelopmental disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 11, 2017
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:: RCV000578282.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1702+1G>A]

NM_001032221.6(STXBP1):c.1702+1G>A

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+1G>A

HGVS:

NC_000009.12:g.127682561G>A
NG_016623.1:g.75355G>A
NG_016623.2:g.75651G>A
NM_001032221.6:c.1702+1G>AMANE SELECT
NM_001374306.2:c.1693+1G>A
NM_001374307.2:c.1660+1G>A
NM_001374308.2:c.1660+1G>A
NM_001374309.2:c.1660+1G>A
NM_001374310.2:c.1660+1G>A
NM_001374311.2:c.1660+1G>A
NM_001374312.2:c.1660+1G>A
NM_001374313.2:c.1702+1G>A
NM_001374314.1:c.1702+1G>A
NM_001374315.2:c.1594+1G>A
NM_003165.6:c.1702+1G>A
NC_000009.11:g.130444840G>A
NM_003165.2:c.1702+1G>A
NM_003165.3:c.1702+1G>A

Links:

dbSNP: rs796053377

NCBI 1000 Genomes Browser:

rs796053377

Molecular consequence:

NM_001032221.6:c.1702+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374306.2:c.1693+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374307.2:c.1660+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374308.2:c.1660+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374309.2:c.1660+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374310.2:c.1660+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374311.2:c.1660+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374312.2:c.1660+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374313.2:c.1702+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374314.1:c.1702+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374315.2:c.1594+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_003165.6:c.1702+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: STXBP1-associated neurodevelopmental disorder
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000680114	Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Jul 11, 2017)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000680114

Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Jul 11, 2017)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV000680114.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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