NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs) AND Intellectual disability, autosomal dominant 5

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 14, 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:: RCV001250746.1

Allele description [Variation Report for NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)]

NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)

Genes:

SYNGAP1-AS1:SYNGAP1 antisense RNA 1 [Gene - HGNC]
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.2621_2625dup (p.Ser876fs)

HGVS:

NC_000006.12:g.33443173_33443177dup
NG_016137.2:g.28104_28108dup
NM_001130066.2:c.2579_2583dup
NM_006772.3:c.2621_2625dupMANE SELECT
NP_001123538.1:p.Ser862fs
NP_006763.2:p.Ser876fs
LRG_1193t1:c.2621_2625dup
LRG_1193:g.28104_28108dup
LRG_1193p1:p.Ser876fs
NC_000006.11:g.33410950_33410954dup
NM_006772.2:c.2621_2625dup

Protein change:

S862fs

Links:

dbSNP: rs1761096151

NCBI 1000 Genomes Browser:

rs1761096151

Molecular consequence:

NM_001130066.2:c.2579_2583dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006772.3:c.2621_2625dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Intellectual disability, autosomal dominant 5 (MRD5)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5
Identifiers:: MONDO: MONDO:0012960; MedGen: C2675473; OMIM: 612621

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426164	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Jun 14, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426164

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Jun 14, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV001426164.1

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

Last Updated: Aug 5, 2023

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