NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln) AND Mental retardation, autosomal dominant 15

Clinical significance:Likely pathogenic (Last evaluated: Nov 1, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000505224.1

Allele description [Variation Report for NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)]

NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)

Gene:
SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)
HGVS:
  • NC_000022.11:g.23803396G>A
  • NG_009303.1:g.21434G>A
  • NM_001007468.3:c.575G>A
  • NM_001317946.2:c.629G>A
  • NM_001362877.2:c.656G>A
  • NM_003073.5:c.602G>AMANE SELECT
  • NP_001007469.1:p.Arg192Gln
  • NP_001304875.1:p.Arg210Gln
  • NP_001349806.1:p.Arg219Gln
  • NP_003064.2:p.Arg201Gln
  • LRG_520t1:c.602G>A
  • LRG_520:g.21434G>A
  • NC_000022.10:g.24145583G>A
  • NM_003073.3:c.602G>A
Protein change:
R192Q
Links:
dbSNP: rs1555877287
NCBI 1000 Genomes Browser:
rs1555877287
Molecular consequence:
  • NM_001007468.3:c.575G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317946.2:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362877.2:c.656G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003073.5:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, autosomal dominant 15 (CSS3)
Synonyms:
COFFIN-SIRIS SYNDROME 3
Identifiers:
MONDO: MONDO:0013820; MedGen: C3553248; Orphanet: 1465; OMIM: 614608

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000599282Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalsno assertion criteria provided
Likely pathogenic
(Nov 1, 2016)
germlineclinical testing

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

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 Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals, SCV000599282.1

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

Last Updated: Nov 27, 2021

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