NM_003336.4(UBE2A):c.373del (p.Gln125fs) AND Syndromic mental retardation, Nascimento type, X-linked

Clinical significance:Likely pathogenic (Last evaluated: May 24, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000677425.1

Allele description [Variation Report for NM_003336.4(UBE2A):c.373del (p.Gln125fs)]

NM_003336.4(UBE2A):c.373del (p.Gln125fs)

Gene:
UBE2A:ubiquitin conjugating enzyme E2 A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq24
Genomic location:
Preferred name:
NM_003336.4(UBE2A):c.373del (p.Gln125fs)
HGVS:
  • NC_000023.11:g.119583169del
  • NG_009267.1:g.13634del
  • NM_001282161.2:c.274del
  • NM_003336.4:c.373delMANE SELECT
  • NM_181762.3:c.283del
  • NP_001269090.1:p.Gln92fs
  • NP_003327.2:p.Gln125fs
  • NP_861427.1:p.Gln95fs
  • NC_000023.10:g.118717132del
  • NM_003336.2:c.373delC
Protein change:
Q125fs
Links:
dbSNP: rs1556244406
NCBI 1000 Genomes Browser:
rs1556244406
Molecular consequence:
  • NM_001282161.2:c.274del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003336.4:c.373del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181762.3:c.283del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Syndromic mental retardation, Nascimento type, X-linked (MRXSN)
Synonyms:
MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; UBE2A-Related X-Linked Syndromic Mental Retardation; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
Identifiers:
MONDO: MONDO:0010461; MedGen: C3275464; OMIM: 300860

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000803732Molecular Genetics Laboratory,BC Children's and BC Women's Hospitalsno assertion criteria provided
Likely pathogenic
(May 24, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals, SCV000803732.1

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

Last Updated: Nov 27, 2021

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