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NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 21, 2020
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:
RCV000440506.4

Allele description [Variation Report for NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)]

NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)

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.847G>A (p.Glu283Lys)
HGVS:
  • NC_000009.12:g.127668132G>A
  • NG_016623.1:g.60926G>A
  • NM_001032221.6:c.847G>AMANE SELECT
  • NM_001374306.2:c.838G>A
  • NM_001374307.2:c.805G>A
  • NM_001374308.2:c.805G>A
  • NM_001374309.2:c.805G>A
  • NM_001374310.2:c.805G>A
  • NM_001374311.2:c.805G>A
  • NM_001374312.2:c.805G>A
  • NM_001374313.2:c.847G>A
  • NM_001374314.1:c.847G>A
  • NM_001374315.2:c.795-1766G>A
  • NM_003165.6:c.847G>A
  • NP_001027392.1:p.Glu283Lys
  • NP_001361235.1:p.Glu280Lys
  • NP_001361236.1:p.Glu269Lys
  • NP_001361237.1:p.Glu269Lys
  • NP_001361238.1:p.Glu269Lys
  • NP_001361239.1:p.Glu269Lys
  • NP_001361240.1:p.Glu269Lys
  • NP_001361241.1:p.Glu269Lys
  • NP_001361242.1:p.Glu283Lys
  • NP_001361243.1:p.Glu283Lys
  • NP_003156.1:p.Glu283Lys
  • NC_000009.11:g.130430411G>A
  • NM_003165.3:c.847G>A
  • P61764:p.Glu283Lys
Protein change:
E269K; GLU283LYS
Links:
UniProtKB: P61764#VAR_071814; OMIM: 602926.0008; dbSNP: rs587777310
NCBI 1000 Genomes Browser:
rs587777310
Molecular consequence:
  • NM_001374315.2:c.795-1766G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001032221.6:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374307.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374308.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374309.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374310.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374311.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374312.2:c.805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000517284GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Apr 21, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000517284.5

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

Description

Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26865513, 24623842)

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

Last Updated: Feb 25, 2025