U.S. flag

An official website of the United States government

NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 2019
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:
RCV000189626.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)]

NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter)

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.1672C>T (p.Gln558Ter)
Other names:
p.Q558*:CAG>TAG
HGVS:
  • NC_000009.12:g.127682530C>T
  • NG_016623.1:g.75324C>T
  • NM_001032221.6:c.1672C>TMANE SELECT
  • NM_001374306.2:c.1663C>T
  • NM_001374307.2:c.1630C>T
  • NM_001374308.2:c.1630C>T
  • NM_001374309.2:c.1630C>T
  • NM_001374310.2:c.1630C>T
  • NM_001374311.2:c.1630C>T
  • NM_001374312.2:c.1630C>T
  • NM_001374313.2:c.1672C>T
  • NM_001374314.1:c.1672C>T
  • NM_001374315.2:c.1564C>T
  • NM_003165.6:c.1672C>T
  • NP_001027392.1:p.Gln558Ter
  • NP_001361235.1:p.Gln555Ter
  • NP_001361236.1:p.Gln544Ter
  • NP_001361237.1:p.Gln544Ter
  • NP_001361238.1:p.Gln544Ter
  • NP_001361239.1:p.Gln544Ter
  • NP_001361240.1:p.Gln544Ter
  • NP_001361241.1:p.Gln544Ter
  • NP_001361242.1:p.Gln558Ter
  • NP_001361243.1:p.Gln558Ter
  • NP_001361244.1:p.Gln522Ter
  • NP_003156.1:p.Gln558Ter
  • NC_000009.11:g.130444809C>T
  • NM_001032221.2:c.1672C>T
  • NM_003165.3:c.1672C>T
Protein change:
Q522*
Links:
dbSNP: rs796053376
NCBI 1000 Genomes Browser:
rs796053376
Molecular consequence:
  • NM_001032221.6:c.1672C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374306.2:c.1663C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374307.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374308.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374309.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374310.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374311.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374312.2:c.1630C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374313.2:c.1672C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374314.1:c.1672C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374315.2:c.1564C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003165.6:c.1672C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000243271GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Nov 5, 2019) 		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, SCV000243271.10

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

Description

Identified previously in a patient with epilepsy (Lindy et al., 2018); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 46 amino acids are lost, and other loss-of-function variants have been reported downstream in the [Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29655203)

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

Last Updated: Sep 29, 2024