NM_130839.5(UBE3A):c.1597dup (p.Ala533fs) AND Angelman syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 10, 2014
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:: RCV000144278.8

Allele description [Variation Report for NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)]

NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)

Genes:

SNHG14:small nucleolar RNA host gene 14 [Gene - OMIM - HGNC]
UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q11.2

Genomic location:

Preferred name:

NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)

HGVS:

NC_000015.10:g.25370577dup
NG_009268.1:g.73405dup
NM_000462.5:c.1606dup
NM_001354505.1:c.1597dup
NM_001354506.2:c.1537dup
NM_001354507.2:c.1537dup
NM_001354508.2:c.1537dup
NM_001354509.2:c.1537dup
NM_001354511.2:c.1537dup
NM_001354512.2:c.1537dup
NM_001354513.2:c.1537dup
NM_001354523.2:c.1537dup
NM_001354526.1:c.1537dup
NM_001354538.2:c.1597dup
NM_001354539.2:c.1537dup
NM_001354540.2:c.1537dup
NM_001354541.2:c.1537dup
NM_001354542.2:c.1537dup
NM_001354543.2:c.1537dup
NM_001354544.2:c.1537dup
NM_001354545.2:c.1597dup
NM_001354546.2:c.1420dup
NM_001354547.2:c.1537dup
NM_001354548.2:c.1537dup
NM_001354549.2:c.1537dup
NM_001354550.2:c.361+4888dup
NM_001354551.2:c.301+4888dup
NM_001374461.1:c.1537dup
NM_130838.4:c.1537dup
NM_130839.5:c.1597dupMANE SELECT
NP_000453.2:p.Ala536fs
NP_001341434.1:p.Ala533fs
NP_001341435.1:p.Ala513fs
NP_001341436.1:p.Ala513fs
NP_001341437.1:p.Ala513fs
NP_001341438.1:p.Ala513fs
NP_001341440.1:p.Ala513fs
NP_001341441.1:p.Ala513fs
NP_001341442.1:p.Ala513fs
NP_001341452.1:p.Ala513fs
NP_001341455.1:p.Ala513fs
NP_001341467.1:p.Ala533fs
NP_001341468.1:p.Ala513fs
NP_001341469.1:p.Ala513fs
NP_001341470.1:p.Ala513fs
NP_001341471.1:p.Ala513fs
NP_001341472.1:p.Ala513fs
NP_001341473.1:p.Ala513fs
NP_001341474.1:p.Ala533fs
NP_001341475.1:p.Ala474fs
NP_001341476.1:p.Ala513fs
NP_001341477.1:p.Ala513fs
NP_001341478.1:p.Ala513fs
NP_001361390.1:p.Ala513fs
NP_570853.1:p.Ala513fs
NP_570854.1:p.Ala533fs
LRG_15t1:c.1537dup
LRG_15:g.73405dup
NC_000015.9:g.25615724dup
NM_130838.1:c.1537dupG
NR_148916.2:n.2113dup
p.A513fs

Protein change:

A474fs

Links:

dbSNP: rs587781204

NCBI 1000 Genomes Browser:

rs587781204

Molecular consequence:

NM_000462.5:c.1606dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354505.1:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354506.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354507.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354508.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354509.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354511.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354512.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354513.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354523.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354526.1:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354538.2:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354539.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354540.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354541.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354542.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354543.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354544.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354545.2:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354546.2:c.1420dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354547.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354548.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354549.2:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374461.1:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130838.4:c.1537dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130839.5:c.1597dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354550.2:c.361+4888dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001354551.2:c.301+4888dup - intron variant - [Sequence Ontology: SO:0001627]
NR_148916.2:n.2113dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Angelman syndrome (AS)
Synonyms:: HAPPY PUPPET SYNDROME; Happy puppet syndrome (formerly)
Identifiers:: MONDO: MONDO:0007113; MedGen: C0162635; Orphanet: 72; OMIM: 105830

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000172029	Baylor Genetics - UBE3A Mutation Study	no assertion criteria provided	Pathogenic (Feb 14, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000249349	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 10, 2014)	germline	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

SCV000172029

Baylor Genetics - UBE3A Mutation Study

no assertion criteria provided

Pathogenic
(Feb 14, 2014)

germline

clinical testing

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

SCV000249349

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 10, 2014)

germline

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	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B, Fernandes P, Zhang VW, Ward PA, Miloslavskaya I, Rhead W, Rosenbaum R, Gin R, Roa B, Fang P.

Hum Mutat. 2014 Dec;35(12):1407-17. doi: 10.1002/humu.22687.

PubMed [citation]

PMID:: 25212744

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 Baylor Genetics - UBE3A Mutation Study, SCV000172029.1

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

From Genetic Services Laboratory, University of Chicago, SCV000249349.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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