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NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) AND Intellectual disability

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV002225611.3

Allele description [Variation Report for NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)]

NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)

Gene:
PPP2R1A:protein phosphatase 2 scaffold subunit Aalpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
HGVS:
  • NC_000019.10:g.52212730G>A
  • NG_047068.1:g.27929G>A
  • NM_001363656.2:c.11G>A
  • NM_014225.6:c.548G>AMANE SELECT
  • NP_001350585.1:p.Arg4Gln
  • NP_055040.2:p.Arg183Gln
  • NC_000019.9:g.52715983G>A
  • NM_014225.5:c.548G>A
  • NR_033500.2:n.492G>A
Protein change:
R183Q
Links:
dbSNP: rs1057519947
NCBI 1000 Genomes Browser:
rs1057519947
Molecular consequence:
  • NM_001363656.2:c.11G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014225.6:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033500.2:n.492G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002505368GenomeConnect - Brain Gene Registry
no classification provided
not providedde novophenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV002505368.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Pathogenic and reported on 10-15-2020 by Lab or GTR ID 26957. Variant found to be mosaic in participant. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024