NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) AND Coffin-Siris syndrome 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 18, 2012
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000023251.5

Allele description [Variation Report for NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)]

NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)

Gene:

SMARCE1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys)

HGVS:

NC_000017.11:g.40637511T>C
NG_032163.1:g.15341A>G
NM_003079.5:c.218A>GMANE SELECT
NP_003070.3:p.Tyr73Cys
NC_000017.10:g.38793763T>C
NM_003079.4:c.218A>G
Q969G3:p.Tyr73Cys

Protein change:

Y73C; TYR73CYS

Links:

UniProtKB: Q969G3#VAR_068215; OMIM: 603111.0001; dbSNP: rs387906857

NCBI 1000 Genomes Browser:

rs387906857

Molecular consequence:

NM_003079.5:c.218A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Coffin-Siris syndrome 5 (CSS5)
Identifiers:: MONDO: MONDO:0014838; MedGen: C4310788; Orphanet: 1465; OMIM: 616938

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044542	OMIM	no assertion criteria provided	Pathogenic (Mar 18, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044542

OMIM

no assertion criteria provided

Pathogenic
(Mar 18, 2012)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, et al.

Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.

PubMed [citation]

PMID:: 22426308

Details of each submission

From OMIM, SCV000044542.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Japanese patient (subject 24) with Coffin-Siris syndrome-5 (CSS5; 616938), Tsurusaki et al. (2012) detected a heterozygous A-to-G transition at nucleotide 218 of the SMARCE1 gene that resulted in a tyr-to-cys substitution at codon 73 (Y73C). The mutation occurred as a de novo event and was not observed in any of 368 Japanese controls, in the dbSNP (build 132), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. Functional studies of the variant were not performed.

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

Last Updated: Apr 9, 2023

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