U.S. flag

An official website of the United States government

NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys) AND Intellectual developmental disorder 62

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:
RCV003458913.2

Allele description

NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)

Gene:
DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001321075.3(DLG4):c.1598A>G (p.Tyr533Cys)
HGVS:
  • NC_000017.11:g.7193578T>C
  • NG_008391.3:g.31472A>G
  • NM_001128827.4:c.1589A>G
  • NM_001321074.1:c.1718A>G
  • NM_001321075.3:c.1598A>GMANE SELECT
  • NM_001321076.3:c.1418A>G
  • NM_001321077.3:c.1418A>G
  • NM_001365.5:c.1727A>G
  • NM_001369566.3:c.1517A>G
  • NP_001122299.1:p.Tyr530Cys
  • NP_001308003.1:p.Tyr573Cys
  • NP_001308004.1:p.Tyr533Cys
  • NP_001308005.1:p.Tyr473Cys
  • NP_001308006.1:p.Tyr473Cys
  • NP_001356.1:p.Tyr576Cys
  • NP_001356.1:p.Tyr576Cys
  • NP_001356495.1:p.Tyr506Cys
  • NC_000017.10:g.7096897T>C
  • NG_008391.2:g.31473A>G
  • NM_001365.3:c.1727A>G
  • NM_001365.4:c.1727A>G
  • NR_135527.1:n.2928A>G
Protein change:
Y473C
Molecular consequence:
  • NM_001128827.4:c.1589A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321074.1:c.1718A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321075.3:c.1598A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321076.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321077.3:c.1418A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365.5:c.1727A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369566.3:c.1517A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_135527.1:n.2928A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual developmental disorder 62
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 62; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
Identifiers:
MONDO: MONDO:0032919; MedGen: C5394083; OMIM: 618793

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004176892GenomeConnect - Brain Gene Registry
no classification provided
not providedmaternal, unknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown1not providednot provided1not providedphenotyping only
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GenomeConnect - Brain Gene Registry, SCV004176892.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided
2not provided1not providednot providedphenotyping onlynot provided

Description

Variant classified as Uncertain significance and reported on 08-07-2023 by GeneDx. This variant was identified in the participant's parent enrolled in GenomeConnect. Phenotypic data from the proband has been submitted with this variant. Additional phenotypic information for family members might be available from GenomeConnect.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 Dr. Philip Payne 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
1maternalunknown1not providednot provided1not providednot providednot provided
2unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: May 1, 2024