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NM_153252.5(BRWD3):c.5357G>A (p.Arg1786His) AND Intellectual disability, X-linked 93

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 21, 2023
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:
RCV004785038.1

Allele description [Variation Report for NM_153252.5(BRWD3):c.5357G>A (p.Arg1786His)]

NM_153252.5(BRWD3):c.5357G>A (p.Arg1786His)

Gene:
BRWD3:bromodomain and WD repeat domain containing 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_153252.5(BRWD3):c.5357G>A (p.Arg1786His)
HGVS:
  • NC_000023.11:g.80676661C>T
  • NG_021349.1:g.138074G>A
  • NG_021349.2:g.138216G>A
  • NM_153252.5:c.5357G>AMANE SELECT
  • NP_694984.5:p.Arg1786His
  • NC_000023.10:g.79932160C>T
Protein change:
R1786H
Molecular consequence:
  • NM_153252.5:c.5357G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, X-linked 93 (XLID93)
Synonyms:
MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY; X-linked intellectual developmental disorder-93
Identifiers:
MONDO: MONDO:0010393; MedGen: C1970841; OMIM: 300659

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005397489Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 21, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center, SCV005397489.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence variant is a single nucleotide substitution (G>A) at position 5357 of the coding sequence of the BRWD3 gene that results in an arginine to histidine amino acid change at residue 1786 of the bromodomain and WD repeat domain containing 3 protein. This variant is absent from ClinVar and from the gnomAD population database (0 of ~182,000 alleles). Literature reports of this variant present in individuals with BRWD3-related disorders have not been published, to our knowledge. Multiple bioinformatic tools predict that this arginine to histidine amino acid change would be damaging, and the Arg1786 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functiol consequence of this variant have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this a variant of uncertain significance. ACMG Criteria: PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 18, 2024