NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 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:: RCV002345682.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)]

NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)

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.569G>A (p.Arg190Gln)

Other names:

p.R190Q:CGG>CAG

HGVS:

NC_000009.12:g.127663344G>A
NG_016623.1:g.56138G>A
NM_001032221.6:c.569G>AMANE SELECT
NM_001374306.2:c.560G>A
NM_001374307.2:c.527G>A
NM_001374308.2:c.527G>A
NM_001374309.2:c.527G>A
NM_001374310.2:c.527G>A
NM_001374311.2:c.527G>A
NM_001374312.2:c.527G>A
NM_001374313.2:c.569G>A
NM_001374314.1:c.569G>A
NM_001374315.2:c.569G>A
NM_003165.6:c.569G>A
NP_001027392.1:p.Arg190Gln
NP_001361235.1:p.Arg187Gln
NP_001361236.1:p.Arg176Gln
NP_001361237.1:p.Arg176Gln
NP_001361238.1:p.Arg176Gln
NP_001361239.1:p.Arg176Gln
NP_001361240.1:p.Arg176Gln
NP_001361241.1:p.Arg176Gln
NP_001361242.1:p.Arg190Gln
NP_001361243.1:p.Arg190Gln
NP_001361244.1:p.Arg190Gln
NP_003156.1:p.Arg190Gln
NC_000009.11:g.130425623G>A
NM_001032221.2:c.569G>A
NM_001032221.3:c.569G>A
NM_003165.3:c.569G>A
NM_003165.4:c.569G>A
NM_003165.6:c.569G>A

Protein change:

R176Q

Links:

dbSNP: rs796053356

NCBI 1000 Genomes Browser:

rs796053356

Molecular consequence:

NM_001032221.6:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374306.2:c.560G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374307.2:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374308.2:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374309.2:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374310.2:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374311.2:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374312.2:c.527G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374313.2:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374314.1:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374315.2:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003165.6:c.569G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002648250	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 22, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23708187, 23934111, 26633542 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002648250

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 22, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, et al.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

PubMed [citation]

PMID:: 23708187
PMCID:: PMC3704157

De novo mutations in epileptic encephalopathies.

Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, et al.

Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.

PubMed [citation]

PMID:: 23934111
PMCID:: PMC3773011

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002648250.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The p.R190Q variant (also known as c.569G>A), located in coding exon 7 of the STXBP1 gene, results from a G to A substitution at nucleotide position 569. The arginine at codon 190 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a subject with epilepsy from a whole exome sequencing cohort (Retterer K et al. Genet. Med., 2016 07;18:696-704). Another alterations affecting the same amino acid, p.R190W (c.568C>T), has also been reported in association with epilepsy (Carvill GL et al. Nat. Genet., 2013 Jul;45:825-30). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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