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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 22, 2016
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:: RCV000622632.3

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:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000741911	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Nov 22, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000741911

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Nov 22, 2016)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical 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, SCV000741911.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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