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NM_001032221.6(STXBP1):c.23C>G (p.Ala8Gly) AND STXBP1-related neurodevelopmental disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 2, 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:
RCV001270898.4

Allele description [Variation Report for NM_001032221.6(STXBP1):c.23C>G (p.Ala8Gly)]

NM_001032221.6(STXBP1):c.23C>G (p.Ala8Gly)

Genes:
LOC130002651:ATAC-STARR-seq lymphoblastoid silent region 20307 [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.23C>G (p.Ala8Gly)
HGVS:
  • NC_000009.12:g.127612426C>G
  • NG_016623.1:g.5220C>G
  • NM_001032221.6:c.23C>GMANE SELECT
  • NM_001374306.2:c.23C>G
  • NM_001374307.2:c.-115C>G
  • NM_001374308.2:c.-210C>G
  • NM_001374309.2:c.-6+379C>G
  • NM_001374310.2:c.-210C>G
  • NM_001374311.2:c.-115C>G
  • NM_001374312.2:c.-122C>G
  • NM_001374313.2:c.23C>G
  • NM_001374314.1:c.23C>G
  • NM_001374315.2:c.23C>G
  • NM_003165.6:c.23C>G
  • NP_001027392.1:p.Ala8Gly
  • NP_001361235.1:p.Ala8Gly
  • NP_001361242.1:p.Ala8Gly
  • NP_001361243.1:p.Ala8Gly
  • NP_001361244.1:p.Ala8Gly
  • NP_003156.1:p.Ala8Gly
  • NC_000009.11:g.130374705C>G
  • NM_003165.3:c.23C>G
Protein change:
A8G
Links:
dbSNP: rs1838429772
NCBI 1000 Genomes Browser:
rs1838429772
Molecular consequence:
  • NM_001374307.2:c.-115C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374308.2:c.-210C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374310.2:c.-210C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374311.2:c.-115C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374312.2:c.-122C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374309.2:c.-6+379C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001032221.6:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374315.2:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.23C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
STXBP1-related neurodevelopmental disorder
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451679Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Jun 2, 2020) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451679.1

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

Description

The STXBP1 c.23C>G (p.Ala8Gly) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Ala8Gly variant is classified as a variant of uncertain significance for STXBP1-related neurodevelopmental disorder.

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

Last Updated: Oct 14, 2023