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NM_001081550.2(THOC2):c.4756C>T (p.His1586Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2022
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:
RCV003126355.3

Allele description [Variation Report for NM_001081550.2(THOC2):c.4756C>T (p.His1586Tyr)]

NM_001081550.2(THOC2):c.4756C>T (p.His1586Tyr)

Gene:
THOC2:THO complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NM_001081550.2(THOC2):c.4756C>T (p.His1586Tyr)
HGVS:
  • NC_000023.11:g.123610962G>A
  • NG_021468.1:g.127092C>T
  • NG_021468.2:g.127090C>T
  • NM_001081550.2:c.4756C>TMANE SELECT
  • NP_001075019.1:p.His1586Tyr
  • NC_000023.10:g.122744813G>A
Protein change:
H1586Y
Molecular consequence:
  • NM_001081550.2:c.4756C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003802846Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL CNVClassificationCriteria Aug2020)		Uncertain significance
(Aug 8, 2022) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, et al.

Front Mol Neurosci. 2020;13:12. doi: 10.3389/fnmol.2020.00012.

PubMed [citation]
PMID:
32116545
PMCID:
PMC7026477

Details of each submission

From Illumina Laboratory Services, Illumina, SCV003802846.1

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

Description

The THOC2 c.4756C>T (p.His1586Tyr) missense variant results in the substitution of histidine at amino acid position 1586 with tyrosine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in two alleles at a frequency of 0.000038 in the European (non-Finnish) population, which includes one hemizygote (version 3.1.2). A second hemizygote is reported in Genome Aggregation Database version 2.1.1. The c.4756C>T variant is located in the RNA binding domain (PMID: 32116545), but the functional impact of the variant is unclear and in silico predictions show mixed results. Based on the available evidence, the c.4756C>T (p.His1586Tyr) variant is classified as a variant of uncertain significance for X-linked intellectual disability-short stature-overweight syndrome.

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

Last Updated: Apr 9, 2023