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NM_006772.3(SYNGAP1):c.3583-6G>A AND Intellectual disability

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 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:
RCV000224644.2

Allele description [Variation Report for NM_006772.3(SYNGAP1):c.3583-6G>A]

NM_006772.3(SYNGAP1):c.3583-6G>A

Genes:
SYNGAP1-AS1:SYNGAP1 antisense RNA 1 [Gene - HGNC]
SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_006772.3(SYNGAP1):c.3583-6G>A
HGVS:
  • NC_000006.12:g.33446569G>A
  • NG_016137.2:g.31500G>A
  • NM_001130066.2:c.3541-12G>A
  • NM_006772.3:c.3583-6G>AMANE SELECT
  • LRG_1193t1:c.3583-6G>A
  • LRG_1193:g.31500G>A
  • NC_000006.11:g.33414346G>A
  • NM_006772.2:c.3583-6G>A
  • g.33414346G>A
Links:
dbSNP: rs869312674
NCBI 1000 Genomes Browser:
rs869312674
Molecular consequence:
  • NM_001130066.2:c.3541-12G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006772.3:c.3583-6G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281748Diagnostic Laboratory, Strasbourg University Hospital
criteria provided, single submitter

(submitter's publication)		Pathogenic
(Jul 25, 2014) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided106not providedclinical testing

Citations

PubMed

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, et al.

J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28.

PubMed [citation]
PMID:
25167861
PMCID:
PMC4215287

Details of each submission

From Diagnostic Laboratory, Strasbourg University Hospital, SCV000281748.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes106not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024