NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 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:: RCV002332194.2

Allele description [Variation Report for NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)]

NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)

Gene:

SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6p21.32

Genomic location:

Preferred name:

NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)

HGVS:

NC_000006.12:g.33432731_33432744dup
NG_016137.2:g.17662_17675dup
NM_001130066.2:c.434_447dup
NM_006772.3:c.434_447dupMANE SELECT
NP_001123538.1:p.Leu150fs
NP_006763.2:p.Leu150fs
LRG_1193t1:c.434_447dup
LRG_1193:g.17662_17675dup
LRG_1193p1:p.Leu150fs
NC_000006.11:g.33400508_33400521dup
NM_006772.2:c.434_447dupAGTCACAACCCAAA

Protein change:

L150fs

Molecular consequence:

NM_001130066.2:c.434_447dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006772.3:c.434_447dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002632176	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 12, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002632176

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 12, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002632176.2

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

Description

The c.434_447dup14 pathogenic mutation, located in coding exon 5 of the SYNGAP1 gene, results from a duplication of AGTCACAACCCAAA at nucleotide position 434, causing a translational frameshift with a predicted alternate stop codon (p.L150Sfs*29). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024

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