NM_033656.4(BRWD1):c.2352G>A (p.Ser784=) AND Autistic disorder of childhood onset

Clinical significance:Uncertain significance (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000679937.1

Allele description [Variation Report for NM_033656.4(BRWD1):c.2352G>A (p.Ser784=)]

NM_033656.4(BRWD1):c.2352G>A (p.Ser784=)

Gene:
BRWD1:bromodomain and WD repeat domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.2
Genomic location:
Preferred name:
NM_033656.4(BRWD1):c.2352G>A (p.Ser784=)
HGVS:
  • NC_000021.9:g.39247830C>T
  • NG_029919.1:g.70957G>A
  • NG_029919.2:g.70957G>A
  • NM_018963.5:c.2352G>A
  • NM_033656.4:c.2352G>AMANE SELECT
  • NP_061836.2:p.Ser784=
  • NP_387505.1:p.Ser784=
  • NC_000021.8:g.40619756C>T
  • NM_018963.4:c.2352G>A
Links:
dbSNP: rs918131106
NCBI 1000 Genomes Browser:
rs918131106
Molecular consequence:
  • NM_018963.5:c.2352G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_033656.4:c.2352G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807371Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Sep 1, 2017)
de novoclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, et al.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

PubMed [citation]
PMID:
22495309
PMCID:
PMC3350576

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
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000807371.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)
PubMed (3)

Description

A de novo mutation in BRWD1 was reported in one patient with autism [PMID: 22495309]. However, there is not sufficient data to confirm the effect of BRWD1 mutations. The c.2352G>A change is located at 3 base pairs downstream of the splice site of exon 21. Although the c.2352G>A change is predicted as a synonymous variant, this change may affect RNA splicing. Likely pathogenicity based on its de novo finding in an 8-year-old male with speech regression, autism spectrum, seizures, macrocephaly, large ears, penile pigmented nevi.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided
(GTR000508680.4)
not providednot providednot providednot provided

Last Updated: Sep 24, 2021

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