NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr) AND Seizure

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV004546667.2

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)]

NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)

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.1655G>A (p.Cys552Tyr)

HGVS:

NC_000009.12:g.127682513G>A
NG_016623.1:g.75307G>A
NM_001032221.6:c.1655G>AMANE SELECT
NM_001374306.2:c.1646G>A
NM_001374307.2:c.1613G>A
NM_001374308.2:c.1613G>A
NM_001374309.2:c.1613G>A
NM_001374310.2:c.1613G>A
NM_001374311.2:c.1613G>A
NM_001374312.2:c.1613G>A
NM_001374313.2:c.1655G>A
NM_001374314.1:c.1655G>A
NM_001374315.2:c.1547G>A
NM_003165.6:c.1655G>A
NP_001027392.1:p.Cys552Tyr
NP_001361235.1:p.Cys549Tyr
NP_001361236.1:p.Cys538Tyr
NP_001361237.1:p.Cys538Tyr
NP_001361238.1:p.Cys538Tyr
NP_001361239.1:p.Cys538Tyr
NP_001361240.1:p.Cys538Tyr
NP_001361241.1:p.Cys538Tyr
NP_001361242.1:p.Cys552Tyr
NP_001361243.1:p.Cys552Tyr
NP_001361244.1:p.Cys516Tyr
NP_003156.1:p.Cys552Tyr
NC_000009.11:g.130444792G>A
NM_003165.3:c.1655G>A
NM_003165.6:c.1655G>A

Protein change:

C516Y

Links:

dbSNP: rs2131536069

NCBI 1000 Genomes Browser:

rs2131536069

Molecular consequence:

NM_001032221.6:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374306.2:c.1646G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374307.2:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374308.2:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374309.2:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374310.2:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374311.2:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374312.2:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374313.2:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374314.1:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374315.2:c.1547G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003165.6:c.1655G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Recent activity

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Slc5a8 protein [Mus musculus]
Slc5a8 protein [Mus musculus]
gi|17389275|gb|AAH17691.1|

Protein
unnamed protein product, partial [Mus musculus]
unnamed protein product, partial [Mus musculus]
gi|74208889|dbj|BAE21195.1|

Protein
transcriptional enhancer factor TEF-4 isoform b [Mus musculus]
transcriptional enhancer factor TEF-4 isoform b [Mus musculus]
gi|550822085|ref|NP_001272429.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005040963	Génétique des Maladies du Développement, Hospices Civils de Lyon	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 23, 2024)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005040963

Génétique des Maladies du Développement, Hospices Civils de Lyon

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 23, 2024)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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 Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV005040963.1

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

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

Last Updated: Jun 23, 2024

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