U.S. flag

An official website of the United States government

NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 21, 2017
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:
RCV000489440.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn)]

NM_001032221.6(STXBP1):c.695T>A (p.Ile232Asn)

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.695T>A (p.Ile232Asn)
HGVS:
  • NC_000009.12:g.127666197T>A
  • NG_016623.1:g.58991T>A
  • NM_001032221.6:c.695T>AMANE SELECT
  • NM_001374306.2:c.686T>A
  • NM_001374307.2:c.653T>A
  • NM_001374308.2:c.653T>A
  • NM_001374309.2:c.653T>A
  • NM_001374310.2:c.653T>A
  • NM_001374311.2:c.653T>A
  • NM_001374312.2:c.653T>A
  • NM_001374313.2:c.695T>A
  • NM_001374314.1:c.695T>A
  • NM_001374315.2:c.695T>A
  • NM_003165.6:c.695T>A
  • NP_001027392.1:p.Ile232Asn
  • NP_001361235.1:p.Ile229Asn
  • NP_001361236.1:p.Ile218Asn
  • NP_001361237.1:p.Ile218Asn
  • NP_001361238.1:p.Ile218Asn
  • NP_001361239.1:p.Ile218Asn
  • NP_001361240.1:p.Ile218Asn
  • NP_001361241.1:p.Ile218Asn
  • NP_001361242.1:p.Ile232Asn
  • NP_001361243.1:p.Ile232Asn
  • NP_001361244.1:p.Ile232Asn
  • NP_003156.1:p.Ile232Asn
  • NC_000009.11:g.130428476T>A
  • NM_003165.3:c.695T>A
Protein change:
I218N
Links:
dbSNP: rs1085308022
NCBI 1000 Genomes Browser:
rs1085308022
Molecular consequence:
  • NM_001032221.6:c.695T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374306.2:c.686T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374307.2:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374308.2:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374309.2:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374310.2:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374311.2:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374312.2:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374313.2:c.695T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374314.1:c.695T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374315.2:c.695T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003165.6:c.695T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV000577846GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Jul 21, 2017) 		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, SCV000577846.4

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

Description

The I232N variant in the STXBP1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The I232N variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I232N variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The I232N variant is a strong candidate for a disease-causing variant. However, the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Sep 17, 2022