NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) AND Angelman syndrome

Clinical significance:Likely benign (Last evaluated: Dec 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000144337.6

Allele description [Variation Report for NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)]

NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr)

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.1064G>C (p.Ser355Thr)
HGVS:
  • NC_000015.10:g.25371110C>G
  • NG_002690.1:g.590201C>G
  • NG_009268.1:g.72872G>C
  • NM_000462.5:c.1073G>C
  • NM_001354505.1:c.1064G>C
  • NM_001354506.2:c.1004G>C
  • NM_001354507.2:c.1004G>C
  • NM_001354508.2:c.1004G>C
  • NM_001354509.2:c.1004G>C
  • NM_001354511.2:c.1004G>C
  • NM_001354512.2:c.1004G>C
  • NM_001354513.2:c.1004G>C
  • NM_001354523.2:c.1004G>C
  • NM_001354526.1:c.1004G>C
  • NM_001354538.2:c.1064G>C
  • NM_001354539.2:c.1004G>C
  • NM_001354540.2:c.1004G>C
  • NM_001354541.2:c.1004G>C
  • NM_001354542.2:c.1004G>C
  • NM_001354543.2:c.1004G>C
  • NM_001354544.2:c.1004G>C
  • NM_001354545.2:c.1064G>C
  • NM_001354546.2:c.887G>C
  • NM_001354547.2:c.1004G>C
  • NM_001354548.2:c.1004G>C
  • NM_001354549.2:c.1004G>C
  • NM_001354550.2:c.361+4355G>C
  • NM_001354551.2:c.301+4355G>C
  • NM_001374461.1:c.1004G>C
  • NM_130838.4:c.1004G>C
  • NM_130839.5:c.1064G>CMANE SELECT
  • NP_000453.2:p.Ser358Thr
  • NP_001341434.1:p.Ser355Thr
  • NP_001341435.1:p.Ser335Thr
  • NP_001341436.1:p.Ser335Thr
  • NP_001341437.1:p.Ser335Thr
  • NP_001341438.1:p.Ser335Thr
  • NP_001341440.1:p.Ser335Thr
  • NP_001341441.1:p.Ser335Thr
  • NP_001341442.1:p.Ser335Thr
  • NP_001341452.1:p.Ser335Thr
  • NP_001341455.1:p.Ser335Thr
  • NP_001341467.1:p.Ser355Thr
  • NP_001341468.1:p.Ser335Thr
  • NP_001341469.1:p.Ser335Thr
  • NP_001341470.1:p.Ser335Thr
  • NP_001341471.1:p.Ser335Thr
  • NP_001341472.1:p.Ser335Thr
  • NP_001341473.1:p.Ser335Thr
  • NP_001341474.1:p.Ser355Thr
  • NP_001341475.1:p.Ser296Thr
  • NP_001341476.1:p.Ser335Thr
  • NP_001341477.1:p.Ser335Thr
  • NP_001341478.1:p.Ser335Thr
  • NP_001361390.1:p.Ser335Thr
  • NP_570853.1:p.Ser335Thr
  • NP_570854.1:p.Ser355Thr
  • LRG_15t1:c.1004G>C
  • LRG_15:g.72872G>C
  • NC_000015.9:g.25616257C>G
  • NM_130838.1:c.1004G>C
  • NR_148916.2:n.1580G>C
  • p.S335T
Protein change:
S296T
Links:
dbSNP: rs141984760
NCBI 1000 Genomes Browser:
rs141984760
Molecular consequence:
  • NM_001354550.2:c.361+4355G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354551.2:c.301+4355G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000462.5:c.1073G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354505.1:c.1064G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354506.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354507.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354508.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354509.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354511.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354512.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354513.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354523.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354526.1:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354538.2:c.1064G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354539.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354540.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354541.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354542.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354543.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354544.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354545.2:c.1064G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354546.2:c.887G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354547.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354548.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354549.2:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374461.1:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130838.4:c.1004G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130839.5:c.1064G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148916.2:n.1580G>C - 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
SCV000188514Baylor Genetics - UBE3A Mutation Studyno assertion criteria providedUncertain significance
(Feb 14, 2014)
germlineclinical testing

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

SCV000630040Invitaecriteria provided, single submitter
Likely benign
(Dec 4, 2020)
germlineclinical testing

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

Description

Data collected from clinical UBE3A sequence analysis results

SCV000188514

Summary from all submissions

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Baylor Genetics - UBE3A Mutation Study, SCV000188514.1

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

Description

possible diagnosis of Angelman syndrome

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

From Invitae, SCV000630040.4

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

Last Updated: Nov 27, 2021

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