NM_130839.5(UBE3A):c.582A>G (p.Ala194=) AND Angelman syndrome

Clinical significance:Uncertain significance (Last evaluated: Sep 19, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000768361.1

Allele description [Variation Report for NM_130839.5(UBE3A):c.582A>G (p.Ala194=)]

NM_130839.5(UBE3A):c.582A>G (p.Ala194=)

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.582A>G (p.Ala194=)
HGVS:
  • NC_000015.10:g.25371592T>C
  • NG_002690.1:g.590683T>C
  • NG_009268.1:g.72390A>G
  • NM_000462.5:c.591A>G
  • NM_001354505.1:c.582A>G
  • NM_001354506.2:c.522A>G
  • NM_001354507.2:c.522A>G
  • NM_001354508.2:c.522A>G
  • NM_001354509.2:c.522A>G
  • NM_001354511.2:c.522A>G
  • NM_001354512.2:c.522A>G
  • NM_001354513.2:c.522A>G
  • NM_001354523.2:c.522A>G
  • NM_001354526.1:c.522A>G
  • NM_001354538.2:c.582A>G
  • NM_001354539.2:c.522A>G
  • NM_001354540.2:c.522A>G
  • NM_001354541.2:c.522A>G
  • NM_001354542.2:c.522A>G
  • NM_001354543.2:c.522A>G
  • NM_001354544.2:c.522A>G
  • NM_001354545.2:c.582A>G
  • NM_001354546.2:c.405A>G
  • NM_001354547.2:c.522A>G
  • NM_001354548.2:c.522A>G
  • NM_001354549.2:c.522A>G
  • NM_001354550.2:c.361+3873A>G
  • NM_001354551.2:c.301+3873A>G
  • NM_001374461.1:c.522A>G
  • NM_130838.4:c.522A>G
  • NM_130839.5:c.582A>GMANE SELECT
  • NP_000453.2:p.Ala197=
  • NP_001341434.1:p.Ala194=
  • NP_001341435.1:p.Ala174=
  • NP_001341436.1:p.Ala174=
  • NP_001341437.1:p.Ala174=
  • NP_001341438.1:p.Ala174=
  • NP_001341440.1:p.Ala174=
  • NP_001341441.1:p.Ala174=
  • NP_001341442.1:p.Ala174=
  • NP_001341452.1:p.Ala174=
  • NP_001341455.1:p.Ala174=
  • NP_001341467.1:p.Ala194=
  • NP_001341468.1:p.Ala174=
  • NP_001341469.1:p.Ala174=
  • NP_001341470.1:p.Ala174=
  • NP_001341471.1:p.Ala174=
  • NP_001341472.1:p.Ala174=
  • NP_001341473.1:p.Ala174=
  • NP_001341474.1:p.Ala194=
  • NP_001341475.1:p.Ala135=
  • NP_001341476.1:p.Ala174=
  • NP_001341477.1:p.Ala174=
  • NP_001341478.1:p.Ala174=
  • NP_001361390.1:p.Ala174=
  • NP_570853.1:p.Ala174=
  • NP_570854.1:p.Ala194=
  • LRG_15:g.72390A>G
  • NC_000015.9:g.25616739T>C
  • NM_000462.3:c.591A>G
  • NR_148916.2:n.1098A>G
Links:
dbSNP: rs764101035
NCBI 1000 Genomes Browser:
rs764101035
Molecular consequence:
  • NM_001354550.2:c.361+3873A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354551.2:c.301+3873A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148916.2:n.1098A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000462.5:c.591A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354505.1:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354506.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354507.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354508.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354509.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354511.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354512.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354513.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354523.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354526.1:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354538.2:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354539.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354540.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354541.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354542.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354543.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354544.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354545.2:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354546.2:c.405A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354547.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354548.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354549.2:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001374461.1:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_130838.4:c.522A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_130839.5:c.582A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000899068Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Uncertain significance
(Sep 19, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV000899068.1

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

Description

UBE3A NM_130838.1 exon 3 p.Ala174= (c.522A>G): This variant has not been reported in the literature but is present in 4/34418 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs764101035). This variant is present in ClinVar (Variation ID:500854). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Apr 12, 2021

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