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NM_181672.3(OGT):c.2533T>A (p.Cys845Ser) AND OGT-related X-linked syndromic intellectual disability

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001270907.4

Allele description [Variation Report for NM_181672.3(OGT):c.2533T>A (p.Cys845Ser)]

NM_181672.3(OGT):c.2533T>A (p.Cys845Ser)

Gene:
OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_181672.3(OGT):c.2533T>A (p.Cys845Ser)
HGVS:
  • NC_000023.11:g.71564697T>A
  • NG_015875.1:g.36636T>A
  • NM_181672.3:c.2533T>AMANE SELECT
  • NM_181673.3:c.2503T>A
  • NP_858058.1:p.Cys845Ser
  • NP_858059.1:p.Cys835Ser
  • NC_000023.10:g.70784547T>A
  • NM_181672.2:c.2533T>A
Protein change:
C835S
Links:
dbSNP: rs2040405196
NCBI 1000 Genomes Browser:
rs2040405196
Molecular consequence:
  • NM_181672.3:c.2533T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181673.3:c.2503T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
OGT-related X-linked syndromic intellectual disability
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451688Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(Aug 18, 2020) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451688.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The OGT c.2533T>A (p.Cys845Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Cys845Ser variant is classified as a variant of uncertain significance for OGT-related X-linked syndromic intellectual disability.

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

Last Updated: Apr 9, 2023