NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) AND Coffin-Siris syndrome 5

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Apr 11, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000677665.3

Allele description [Variation Report for NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)]

NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)

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.276G>C (p.Lys92Asn)

HGVS:

NC_000017.11:g.40636488C>G
NG_032163.1:g.16364G>C
NM_003079.5:c.276G>CMANE SELECT
NP_003070.3:p.Lys92Asn
NC_000017.10:g.38792740C>G
NM_003079.4:c.276G>C

Protein change:

K92N

Links:

dbSNP: rs1555605795

NCBI 1000 Genomes Browser:

rs1555605795

Molecular consequence:

NM_003079.5:c.276G>C - 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
SCV000803805	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 13, 2017)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004041529	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 11, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000803805

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 13, 2017)

de novo

clinical testing

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

SCV004041529

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 11, 2023)

unknown

clinical testing

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	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803805.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004041529.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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