NM_005445.4(SMC3):c.703_705del (p.Thr235del) AND Cornelia de Lange syndrome 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2015
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:: RCV000201849.1

Allele description [Variation Report for NM_005445.4(SMC3):c.703_705del (p.Thr235del)]

NM_005445.4(SMC3):c.703_705del (p.Thr235del)

Gene:

SMC3:structural maintenance of chromosomes 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

10q25.2

Genomic location:

Preferred name:

NM_005445.4(SMC3):c.703_705del (p.Thr235del)

HGVS:

NC_000010.11:g.110582078_110582080del
NG_012217.1:g.19388_19390del
NM_005445.4:c.703_705delMANE SELECT
NP_005436.1:p.Thr235del
NP_005436.1:p.Thr235del
LRG_774t1:c.703_705del
LRG_774:g.19388_19390del
LRG_774p1:p.Thr235del
NC_000010.10:g.112341836_112341838del
NM_005445.3:c.703_705del

Protein change:

T235del

Links:

OMIM: 606062.0003; dbSNP: rs863225259

NCBI 1000 Genomes Browser:

rs863225259

Molecular consequence:

NM_005445.4:c.703_705del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cornelia de Lange syndrome 3 (CDLS3)
Synonyms:: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
Identifiers:: MONDO: MONDO:0012555; MedGen: C1853099; Orphanet: 199; OMIM: 610759

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256605	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2015)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 25125236, 25655089

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256605

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2015)

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, et al.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

PubMed [citation]

PMID:: 25125236
PMCID:: PMC4173748

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, et al.

Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

PubMed [citation]

PMID:: 25655089

Details of each submission

From OMIM, SCV000256605.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

By gene panel sequencing, Ansari et al. (2014) identified a 3-bp deletion (Thr1235del) in the SMC3 gene in a patient with Cornelia de Lange syndrome-3 (CDLS3; 610759); the patient was somatic mosaic for the mutation. Gil-Rodriguez et al. (2015) reported that the mutation in this female patient with a moderate form of the disorder was a de novo heterozygous in-frame 3-bp deletion (c.703_705del) in exon 9 of the SMC3 gene, resulting in deletion of the conserved residue Thr235 in the coiled-coil region. Functional studies were not performed.

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

Last Updated: Aug 5, 2023

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