NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 25, 2015
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:: RCV000483959.1

Allele description [Variation Report for NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs)]

NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001032221.6(STXBP1):c.1204del (p.Tyr402fs)

HGVS:

NC_000009.12:g.127675897del
NG_016623.1:g.68691del
NM_001032221.6:c.1204delMANE SELECT
NM_001374306.2:c.1195del
NM_001374307.2:c.1162del
NM_001374308.2:c.1162del
NM_001374309.2:c.1162del
NM_001374310.2:c.1162del
NM_001374311.2:c.1162del
NM_001374312.2:c.1162del
NM_001374313.2:c.1204del
NM_001374314.1:c.1204del
NM_001374315.2:c.1096del
NM_003165.6:c.1204del
NP_001027392.1:p.Tyr402fs
NP_001361235.1:p.Tyr399fs
NP_001361236.1:p.Tyr388fs
NP_001361237.1:p.Tyr388fs
NP_001361238.1:p.Tyr388fs
NP_001361239.1:p.Tyr388fs
NP_001361240.1:p.Tyr388fs
NP_001361241.1:p.Tyr388fs
NP_001361242.1:p.Tyr402fs
NP_001361243.1:p.Tyr402fs
NP_001361244.1:p.Tyr366fs
NP_003156.1:p.Tyr402fs
NC_000009.11:g.130438176del
NM_003165.3:c.1204delT

Protein change:

Y366fs

Links:

dbSNP: rs1064793414

NCBI 1000 Genomes Browser:

rs1064793414

Molecular consequence:

NM_001032221.6:c.1204del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374306.2:c.1195del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374307.2:c.1162del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374308.2:c.1162del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374309.2:c.1162del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374310.2:c.1162del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374311.2:c.1162del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374312.2:c.1162del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374313.2:c.1204del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374314.1:c.1204del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374315.2:c.1096del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003165.6:c.1204del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000566058	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Mar 25, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000566058

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Mar 25, 2015)

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, SCV000566058.4

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

Description

This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, we consider it to be pathogenic.

#	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: Sep 17, 2022

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