NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2018
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:: RCV001090606.16

Allele description

NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)

Gene:

STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001032221.6(STXBP1):c.704_705insGG (p.Gly236fs)

HGVS:

NC_000009.12:g.127666206_127666207insGG
NG_016623.1:g.59000_59001insGG
NM_001032221.6:c.704_705insGGMANE SELECT
NM_001374306.2:c.695_696insGG
NM_001374307.2:c.662_663insGG
NM_001374308.2:c.662_663insGG
NM_001374309.2:c.662_663insGG
NM_001374310.2:c.662_663insGG
NM_001374311.2:c.662_663insGG
NM_001374312.2:c.662_663insGG
NM_001374313.2:c.704_705insGG
NM_001374314.1:c.704_705insGG
NM_001374315.2:c.704_705insGG
NM_003165.6:c.704_705insGG
NP_001027392.1:p.Gly236fs
NP_001361235.1:p.Gly233fs
NP_001361236.1:p.Gly222fs
NP_001361237.1:p.Gly222fs
NP_001361238.1:p.Gly222fs
NP_001361239.1:p.Gly222fs
NP_001361240.1:p.Gly222fs
NP_001361241.1:p.Gly222fs
NP_001361242.1:p.Gly236fs
NP_001361243.1:p.Gly236fs
NP_001361244.1:p.Gly236fs
NP_003156.1:p.Gly236fs
NC_000009.11:g.130428485_130428486insGG

Protein change:

G222fs

Links:

dbSNP: rs1841286087

NCBI 1000 Genomes Browser:

rs1841286087

Molecular consequence:

NM_001032221.6:c.704_705insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374306.2:c.695_696insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374307.2:c.662_663insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374308.2:c.662_663insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374309.2:c.662_663insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374310.2:c.662_663insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374311.2:c.662_663insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374312.2:c.662_663insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374313.2:c.704_705insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374314.1:c.704_705insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374315.2:c.704_705insGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003165.6:c.704_705insGG - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus histocompatibility 2, D region locus 1 (H2-D1), mRNA
Mus musculus histocompatibility 2, D region locus 1 (H2-D1), mRNA
gi|133778954|ref|NM_010380.3|

Nucleotide
COPS9 COP9 signalosome subunit 9 [Homo sapiens]
COPS9 COP9 signalosome subunit 9 [Homo sapiens]
Gene ID:150678

Gene
Gene Links for GEO Profiles (Select 88160661) (1)
Gene
Chromosome neighbors for GEO Profiles (Select 88159697) (19)
GEO Profiles
PMC Links for Nucleotide (Select 927231504) (1)
PMC

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001246231	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Dec 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001246231

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Dec 1, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001246231.20

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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