NM_003165.3(STXBP1):c.1162C>T (p.Arg388Ter) AND not provided

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 16, 2014
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:: RCV000189612.1

Allele description

NM_003165.3(STXBP1):c.1162C>T (p.Arg388Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_003165.3(STXBP1):c.1162C>T (p.Arg388Ter)

Other names:

p.R388*:CGA>TGA

HGVS:

NC_000009.12:g.127675855C>T
NG_016623.1:g.68649C>T
NM_001032221.3:c.1162C>T
NM_003165.3:c.1162C>T
NP_001027392.1:p.Arg388Ter
NP_003156.1:p.Arg388Ter
NC_000009.11:g.130438134C>T
NM_001032221.2:c.1162C>T

Protein change:

R388*; ARG388TER

Links:

OMIM: 602926.0005; dbSNP: rs121918321

NCBI 1000 Genomes Browser:

rs121918321

Molecular consequence:

NM_003165.3:c.1162C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000243257	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 16, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000243257

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 16, 2014)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000243257.10

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

Description

p.Arg388Stop (CGA>TGA): c.1162 C>T in exon 14 of the STXBP1 gene (NM_003165.3)The R388X nonsense mutation in the STXBP1 gene has been reported previously in association with intellectual disability with nonsyndromic epilepsy (Hamdan et al., 2009). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in EPILEPSY panel(s).

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2017

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