NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) AND Mental retardation, autosomal dominant 15

Clinical significance:Likely pathogenic (Last evaluated: Dec 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000850606.2

Allele description [Variation Report for NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)]

NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)

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.1121G>A (p.Arg374Gln)
HGVS:
  • NC_000022.11:g.23834143G>A
  • NG_009303.1:g.52181G>A
  • NM_001007468.3:c.1094G>A
  • NM_001317946.2:c.1148G>A
  • NM_001362877.2:c.1175G>A
  • NM_003073.5:c.1121G>AMANE SELECT
  • NP_001007469.1:p.Arg365Gln
  • NP_001304875.1:p.Arg383Gln
  • NP_001349806.1:p.Arg392Gln
  • NP_003064.2:p.Arg374Gln
  • LRG_520t1:c.1121G>A
  • LRG_520:g.52181G>A
  • NC_000022.10:g.24176330G>A
  • NM_003073.3:c.1121G>A
Protein change:
R365Q
Links:
dbSNP: rs1057517825
NCBI 1000 Genomes Browser:
rs1057517825
Molecular consequence:
  • NM_001007468.3:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317946.2:c.1148G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362877.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003073.5:c.1121G>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
SCV000992837Baylor Geneticscriteria provided, single submitter
Likely pathogenic
(Dec 31, 2017)
germlineclinical testing

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

SCV002023597PerkinElmer Genomicsno assertion criteria providedLikely pathogenic
(Aug 16, 2021)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, et al.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

PubMed [citation]
PMID:
23906836

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL.

Am J Med Genet A. 2015 Dec;167A(12):3186-91. doi: 10.1002/ajmg.a.37356. Epub 2015 Sep 14.

PubMed [citation]
PMID:
26364901
See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000992837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From PerkinElmer Genomics, SCV002023597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 28, 2021

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