NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Nov 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622632.2

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]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741911Ambry Geneticscriteria provided, single submitter
Pathogenic
(Nov 22, 2016)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not 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

Details of each submission

From Ambry Genetics, SCV000741911.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 6, 2021

Support Center