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NM_130466.4(UBE3B):c.1445T>A (p.Leu482His) AND Oculocerebrofacial syndrome, Kaufman type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2020
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:
RCV001264815.1

Allele description [Variation Report for NM_130466.4(UBE3B):c.1445T>A (p.Leu482His)]

NM_130466.4(UBE3B):c.1445T>A (p.Leu482His)

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.1445T>A (p.Leu482His)
HGVS:
  • NC_000012.12:g.109503185T>A
  • NG_033898.1:g.30563T>A
  • NM_130466.4:c.1445T>AMANE SELECT
  • NM_183415.3:c.1445T>A
  • NP_569733.2:p.Leu482His
  • NP_904324.1:p.Leu482His
  • NC_000012.11:g.109940990T>A
  • NM_130466.2:c.1445T>A
Protein change:
L482H; LEU482HIS
Links:
OMIM: 608047.0005; dbSNP: rs1879212341
NCBI 1000 Genomes Browser:
rs1879212341
Molecular consequence:
  • NM_130466.4:c.1445T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183415.3:c.1445T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443055Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 1, 2020) 		biparentalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyesnot providednot providednot providednot providednot providedclinical 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001443055.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Review of the variants reported in Reuter et al., 2017, PMID: 28097321: compund heterozygous variants: c.1445T>A: PM2,PM3,PP3 this variant was identified in trans with NM_130466.3:c.1616T>C

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2024