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NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 2021
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:
RCV001807119.3

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)]

NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)

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.1099C>T (p.Arg367Ter)
Other names:
p.R367*:CGA>TGA
HGVS:
  • NC_000009.12:g.127673250C>T
  • NG_016623.1:g.66044C>T
  • NM_001032221.6:c.1099C>TMANE SELECT
  • NM_001374306.2:c.1090C>T
  • NM_001374307.2:c.1057C>T
  • NM_001374308.2:c.1057C>T
  • NM_001374309.2:c.1057C>T
  • NM_001374310.2:c.1057C>T
  • NM_001374311.2:c.1057C>T
  • NM_001374312.2:c.1057C>T
  • NM_001374313.2:c.1099C>T
  • NM_001374314.1:c.1099C>T
  • NM_001374315.2:c.991C>T
  • NM_003165.6:c.1099C>T
  • NP_001027392.1:p.Arg367Ter
  • NP_001361235.1:p.Arg364Ter
  • NP_001361236.1:p.Arg353Ter
  • NP_001361237.1:p.Arg353Ter
  • NP_001361238.1:p.Arg353Ter
  • NP_001361239.1:p.Arg353Ter
  • NP_001361240.1:p.Arg353Ter
  • NP_001361241.1:p.Arg353Ter
  • NP_001361242.1:p.Arg367Ter
  • NP_001361243.1:p.Arg367Ter
  • NP_001361244.1:p.Arg331Ter
  • NP_003156.1:p.Arg367Ter
  • NC_000009.11:g.130435529C>T
  • NM_001032221.2:c.1099C>T
  • NM_003165.3:c.1099C>T
  • p.Arg367X
Protein change:
R331*
Links:
dbSNP: rs796053366
NCBI 1000 Genomes Browser:
rs796053366
Molecular consequence:
  • NM_001032221.6:c.1099C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374306.2:c.1090C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374307.2:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374308.2:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374309.2:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374310.2:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374311.2:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374312.2:c.1057C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374313.2:c.1099C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374314.1:c.1099C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001374315.2:c.991C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003165.6:c.1099C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Cerebellar ataxia
Identifiers:
MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Name:
Tremor
Synonyms:
tremors
Identifiers:
MedGen: C0040822; Human Phenotype Ontology: HP:0001337
Name:
Moderate global developmental delay
Identifiers:
MedGen: C2237142; Human Phenotype Ontology: HP:0011343

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002054113Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 4, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical 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 Institute of Human Genetics, University Hospital Muenster, SCV002054113.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PVS1,PS2,PM2,PP3,PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Nov 3, 2024