NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2016
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:: RCV000622955.11

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)]

NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)

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.1217G>A (p.Arg406His)

HGVS:

NC_000009.12:g.127675910G>A
NG_016623.1:g.68704G>A
NM_001032221.6:c.1217G>AMANE SELECT
NM_001374306.2:c.1208G>A
NM_001374307.2:c.1175G>A
NM_001374308.2:c.1175G>A
NM_001374309.2:c.1175G>A
NM_001374310.2:c.1175G>A
NM_001374311.2:c.1175G>A
NM_001374312.2:c.1175G>A
NM_001374313.2:c.1217G>A
NM_001374314.1:c.1217G>A
NM_001374315.2:c.1109G>A
NM_003165.6:c.1217G>A
NP_001027392.1:p.Arg406His
NP_001361235.1:p.Arg403His
NP_001361236.1:p.Arg392His
NP_001361237.1:p.Arg392His
NP_001361238.1:p.Arg392His
NP_001361239.1:p.Arg392His
NP_001361240.1:p.Arg392His
NP_001361241.1:p.Arg392His
NP_001361242.1:p.Arg406His
NP_001361243.1:p.Arg406His
NP_001361244.1:p.Arg370His
NP_003156.1:p.Arg406His
NP_003156.1:p.Arg406His
NC_000009.11:g.130438189G>A
NM_001032221.6:c.1217G>A
NM_003165.3:c.1217G>A
P61764:p.Arg406His
p.R406H

Protein change:

R370H

Links:

UniProtKB: P61764#VAR_073151; dbSNP: rs886041246

NCBI 1000 Genomes Browser:

rs886041246

Molecular consequence:

NM_001032221.6:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374306.2:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374307.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374308.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374309.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374310.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374311.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374312.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374313.2:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374314.1:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374315.2:c.1109G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003165.6:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000741589	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Jun 22, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 23934111, 21762454 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741589

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Jun 22, 2016)

germline

clinical testing

PubMed (2)
[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
Hispanic/Latin American/Mexican	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Unknown	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

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

Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Héron D.

Epilepsia. 2011 Oct;52(10):1820-7. doi: 10.1111/j.1528-1167.2011.03163.x. Epub 2011 Jul 18.

PubMed [citation]

PMID:: 21762454

Details of each submission

From Ambry Genetics, SCV000741589.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic/Latin American/Mexican	1	not provided	not provided	clinical testing	PubMed (2)
2	Unknown	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Apr 20, 2025

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