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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001426164Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)
Likely pathogenic
(Jun 14, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV001426164.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023