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NM_130839.5(UBE3A):c.2538del (p.Pro847fs) AND Angelman syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2014
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:
RCV000144302.1

Allele description [Variation Report for NM_130839.5(UBE3A):c.2538del (p.Pro847fs)]

NM_130839.5(UBE3A):c.2538del (p.Pro847fs)

Genes:
SNHG14:small nucleolar RNA host gene 14 [Gene - OMIM - HGNC]
UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q11.2
Genomic location:
Preferred name:
NM_130839.5(UBE3A):c.2538del (p.Pro847fs)
HGVS:
  • NC_000015.10:g.25339219del
  • NG_009268.1:g.104764del
  • NM_000462.5:c.2547del
  • NM_001354505.1:c.2538del
  • NM_001354506.2:c.2478del
  • NM_001354507.2:c.2478del
  • NM_001354508.2:c.2478del
  • NM_001354509.2:c.2478del
  • NM_001354511.2:c.2478del
  • NM_001354512.2:c.2478del
  • NM_001354513.2:c.2478del
  • NM_001354523.2:c.2478del
  • NM_001354526.1:c.2478del
  • NM_001354538.2:c.2538del
  • NM_001354539.2:c.2478del
  • NM_001354540.2:c.2478del
  • NM_001354541.2:c.2478del
  • NM_001354542.2:c.2478del
  • NM_001354543.2:c.2478del
  • NM_001354544.2:c.2478del
  • NM_001354545.2:c.2382del
  • NM_001354546.2:c.2361del
  • NM_001354547.2:c.2322del
  • NM_001354548.2:c.2322del
  • NM_001354549.2:c.2313del
  • NM_001354550.2:c.1287del
  • NM_001354551.2:c.1227del
  • NM_001374461.1:c.2478del
  • NM_130838.4:c.2478del
  • NM_130839.5:c.2538delMANE SELECT
  • NP_000453.2:p.Pro850fs
  • NP_001341434.1:p.Pro847fs
  • NP_001341435.1:p.Pro827fs
  • NP_001341436.1:p.Pro827fs
  • NP_001341437.1:p.Pro827fs
  • NP_001341438.1:p.Pro827fs
  • NP_001341440.1:p.Pro827fs
  • NP_001341441.1:p.Pro827fs
  • NP_001341442.1:p.Pro827fs
  • NP_001341452.1:p.Pro827fs
  • NP_001341455.1:p.Pro827fs
  • NP_001341467.1:p.Pro847fs
  • NP_001341468.1:p.Pro827fs
  • NP_001341469.1:p.Pro827fs
  • NP_001341470.1:p.Pro827fs
  • NP_001341471.1:p.Pro827fs
  • NP_001341472.1:p.Pro827fs
  • NP_001341473.1:p.Pro827fs
  • NP_001341474.1:p.Pro795fs
  • NP_001341475.1:p.Pro788fs
  • NP_001341476.1:p.Pro775fs
  • NP_001341477.1:p.Pro775fs
  • NP_001341478.1:p.Pro772fs
  • NP_001341479.1:p.Pro430fs
  • NP_001341480.1:p.Pro410fs
  • NP_001361390.1:p.Pro827fs
  • NP_570853.1:p.Pro827fs
  • NP_570854.1:p.Pro847fs
  • LRG_15:g.104764del
  • NC_000015.9:g.25584366del
  • NR_148916.2:n.3050del
  • p.P827fs
Protein change:
P410fs
Links:
dbSNP: rs587781227
NCBI 1000 Genomes Browser:
rs587781227
Molecular consequence:
  • NM_000462.5:c.2547del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354505.1:c.2538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354506.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354507.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354508.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354509.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354511.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354512.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354513.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354523.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354526.1:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354538.2:c.2538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354539.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354540.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354541.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354542.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354543.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354544.2:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354545.2:c.2382del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354546.2:c.2361del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354547.2:c.2322del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354548.2:c.2322del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354549.2:c.2313del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354550.2:c.1287del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354551.2:c.1227del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374461.1:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130838.4:c.2478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_130839.5:c.2538del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_148916.2:n.3050del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172053Baylor Genetics - UBE3A Mutation Study
no assertion criteria provided
Pathogenic
(Feb 14, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical 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

Details of each submission

From Baylor Genetics - UBE3A Mutation Study, SCV000172053.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 3, 2022