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NM_001032221.6(STXBP1):c.87+1G>A AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jan 31, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000189593.7

Allele description [Variation Report for NM_001032221.6(STXBP1):c.87+1G>A]

NM_001032221.6(STXBP1):c.87+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.87+1G>A
HGVS:
  • NC_000009.12:g.127651653G>A
  • NG_016623.1:g.44447G>A
  • NG_016623.2:g.44743G>A
  • NM_001032221.6:c.87+1G>AMANE SELECT
  • NM_001374306.2:c.87+1G>A
  • NM_001374307.2:c.45+1G>A
  • NM_001374308.2:c.45+1G>A
  • NM_001374309.2:c.45+1G>A
  • NM_001374310.2:c.45+1G>A
  • NM_001374311.2:c.45+1G>A
  • NM_001374312.2:c.45+1G>A
  • NM_001374313.2:c.87+1G>A
  • NM_001374314.1:c.87+1G>A
  • NM_001374315.2:c.87+1G>A
  • NM_003165.6:c.87+1G>A
  • NC_000009.11:g.130413932G>A
  • NM_003165.2:c.87+1G>A
  • NM_003165.3:c.87+1G>A
Links:
dbSNP: rs796053350
NCBI 1000 Genomes Browser:
rs796053350
Molecular consequence:
  • NM_001032221.6:c.87+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374306.2:c.87+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374307.2:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374308.2:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374309.2:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374310.2:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374311.2:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374312.2:c.45+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374313.2:c.87+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374314.1:c.87+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374315.2:c.87+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003165.6:c.87+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000243236GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 31, 2023) 		germlineclinical testing

Citation Link,

SCV000707033Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(Apr 24, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000243236.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29655203)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Eurofins Ntd Llc (ga), SCV000707033.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 13, 2025