NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg) AND Oculocerebrofacial syndrome, Kaufman type

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 3, 2022
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:: RCV002254001.1

Allele description [Variation Report for NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg)]

NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg)

Gene:

UBE3B:ubiquitin protein ligase E3B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

Preferred name:

NM_130466.4(UBE3B):c.2335G>A (p.Gly779Arg)

HGVS:

NC_000012.12:g.109521522G>A
NG_033898.1:g.48900G>A
NM_130466.4:c.2335G>AMANE SELECT
NM_183415.3:c.2335G>A
NP_569733.2:p.Gly779Arg
NP_904324.1:p.Gly779Arg
NC_000012.11:g.109959327G>A

Protein change:

G779R; GLY779ARG

Links:

OMIM: 608047.0006; dbSNP: rs2136067033

NCBI 1000 Genomes Browser:

rs2136067033

Molecular consequence:

NM_130466.4:c.2335G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_183415.3:c.2335G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oculocerebrofacial syndrome, Kaufman type
Synonyms:: Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet; Blepharophimosis-ptosis-intellectual disability syndrome
Identifiers:: MONDO: MONDO:0009485; MedGen: C1855663; Orphanet: 2707; OMIM: 244450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002524119	OMIM	no assertion criteria provided	Pathogenic (Jun 3, 2022)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 24615390, 14556252

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002524119

OMIM

no assertion criteria provided

Pathogenic
(Jun 3, 2022)

germline

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Désir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G.

Hum Genet. 2014 Jul;133(7):939-49. doi: 10.1007/s00439-014-1436-2. Epub 2014 Mar 11.

PubMed [citation]

PMID:: 24615390

Toriello-Carey syndrome: delineation and review.

Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, et al.

Am J Med Genet A. 2003 Nov 15;123A(1):84-90. Review.

PubMed [citation]

PMID:: 14556252

Details of each submission

From OMIM, SCV002524119.1

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

Description

In a brother and sister (patients 4 and 5) of Mexican origin with Kaufman oculocerebrofacial syndrome (KOS; 244450), Basel-Vanagaite et al. (2014) identified a homozygous c.2335G-A transition (c.2335G-A, GRCh37) in the UBE3B gene that resulted in a gly779-to-arg (G779R) substitution at a conserved residue in the HECT domain of the protein. The mutation was identified by exon sequencing of the UBE3B gene and was not present in the Exome Variant Server. The patients had been reported by Toriello et al. (2003) with a diagnosis of Toriello-Carey syndrome (217980). The presence of suggestive facial features led Basel-Vanagaite et al. (2014) to sequence the UBE3B gene in these patients; sequencing of 4 additional Toriello-Carey syndrome patients who did not have a facial appearance characteristic of KOS detected no UBE3B mutations.

#	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: Dec 24, 2023

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