NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) AND Angelman syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Nov 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000144351.7

Allele description [Variation Report for NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)]

NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)

Genes:
SNHG14:small nucleolar RNA host gene 14 [Gene - OMIM - HGNC]
UBE3A:ubiquitin protein ligase E3A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q11.2
Genomic location:
Preferred name:
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser)
HGVS:
  • NC_000015.10:g.25371359T>C
  • NG_002690.1:g.590450T>C
  • NG_009268.1:g.72623A>G
  • NM_000462.5:c.824A>G
  • NM_001354505.1:c.815A>G
  • NM_001354506.2:c.755A>G
  • NM_001354507.2:c.755A>G
  • NM_001354508.2:c.755A>G
  • NM_001354509.2:c.755A>G
  • NM_001354511.2:c.755A>G
  • NM_001354512.2:c.755A>G
  • NM_001354513.2:c.755A>G
  • NM_001354523.2:c.755A>G
  • NM_001354526.1:c.755A>G
  • NM_001354538.2:c.815A>G
  • NM_001354539.2:c.755A>G
  • NM_001354540.2:c.755A>G
  • NM_001354541.2:c.755A>G
  • NM_001354542.2:c.755A>G
  • NM_001354543.2:c.755A>G
  • NM_001354544.2:c.755A>G
  • NM_001354545.2:c.815A>G
  • NM_001354546.2:c.638A>G
  • NM_001354547.2:c.755A>G
  • NM_001354548.2:c.755A>G
  • NM_001354549.2:c.755A>G
  • NM_001354550.2:c.361+4106A>G
  • NM_001354551.2:c.301+4106A>G
  • NM_001374461.1:c.755A>G
  • NM_130838.4:c.755A>G
  • NM_130839.5:c.815A>GMANE SELECT
  • NP_000453.2:p.Asn275Ser
  • NP_001341434.1:p.Asn272Ser
  • NP_001341435.1:p.Asn252Ser
  • NP_001341436.1:p.Asn252Ser
  • NP_001341437.1:p.Asn252Ser
  • NP_001341438.1:p.Asn252Ser
  • NP_001341440.1:p.Asn252Ser
  • NP_001341441.1:p.Asn252Ser
  • NP_001341442.1:p.Asn252Ser
  • NP_001341452.1:p.Asn252Ser
  • NP_001341455.1:p.Asn252Ser
  • NP_001341467.1:p.Asn272Ser
  • NP_001341468.1:p.Asn252Ser
  • NP_001341469.1:p.Asn252Ser
  • NP_001341470.1:p.Asn252Ser
  • NP_001341471.1:p.Asn252Ser
  • NP_001341472.1:p.Asn252Ser
  • NP_001341473.1:p.Asn252Ser
  • NP_001341474.1:p.Asn272Ser
  • NP_001341475.1:p.Asn213Ser
  • NP_001341476.1:p.Asn252Ser
  • NP_001341477.1:p.Asn252Ser
  • NP_001341478.1:p.Asn252Ser
  • NP_001361390.1:p.Asn252Ser
  • NP_570853.1:p.Asn252Ser
  • NP_570854.1:p.Asn272Ser
  • LRG_15t1:c.755A>G
  • LRG_15:g.72623A>G
  • NC_000015.9:g.25616506T>C
  • NM_130838.1:c.755A>G
  • NR_148916.2:n.1331A>G
  • p.N252S
Protein change:
N213S
Links:
dbSNP: rs139928148
NCBI 1000 Genomes Browser:
rs139928148
Molecular consequence:
  • NM_001354550.2:c.361+4106A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354551.2:c.301+4106A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000462.5:c.824A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354505.1:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354506.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354507.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354508.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354509.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354511.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354512.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354513.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354523.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354526.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354538.2:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354539.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354540.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354541.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354542.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354543.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354544.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354545.2:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354546.2:c.638A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354547.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354548.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354549.2:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374461.1:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130838.4:c.755A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130839.5:c.815A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148916.2:n.1331A>G - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000188528Baylor Genetics - UBE3A Mutation Studyno assertion criteria providedUncertain significance
(Feb 14, 2014)
paternalclinical testing

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

SCV000195381Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Uncertain significance
(Feb 8, 2013)
germlineclinical testing

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

SCV000754752Invitaecriteria provided, single submitter
Likely benign
(Nov 18, 2020)
germlineclinical testing

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

SCV000896438Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Description

Data collected from clinical UBE3A sequence analysis results

SCV000188528

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedpaternalyes1not 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

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213
See all PubMed Citations (4)

Details of each submission

From Baylor Genetics - UBE3A Mutation Study, SCV000188528.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

possible diagnosis of Angelman syndrome

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

From Genetic Services Laboratory,University of Chicago, SCV000195381.1

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

From Invitae, SCV000754752.3

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

From Fulgent Genetics,Fulgent Genetics, SCV000896438.1

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

Last Updated: Dec 4, 2021

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