NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) AND History of neurodevelopmental disorder

Clinical significance:Uncertain significance (Last evaluated: Feb 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000719958.1

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:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000850832Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Feb 15, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000850832.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.S335T variant (also known as c.1004G>C), located in coding exon 3 of the UBE3A gene, results from a G to C substitution at nucleotide position 1004. The serine at codon 335 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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