NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser) AND Mental retardation, X-linked 12

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375047.1

Allele description [Variation Report for NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)]

NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)

Gene:
THOC2:THO complex 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq25
Genomic location:
Preferred name:
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)
HGVS:
  • NC_000023.11:g.123636155C>A
  • NG_021468.1:g.101899G>T
  • NM_001081550.2:c.1942G>TMANE SELECT
  • NP_001075019.1:p.Ala648Ser
  • NC_000023.10:g.122770006C>A
Protein change:
A648S
Molecular consequence:
  • NM_001081550.2:c.1942G>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
protein loss of function [Variation Ontology: 0043]

Condition(s)

Name:
Mental retardation, X-linked 12 (XLID12)
Synonyms:
MENTAL RETARDATION, X-LINKED 35; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12
Identifiers:
MONDO: MONDO:0010496; MedGen: C0796218; Orphanet: 457240; OMIM: 300957

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001439262Institute of Bioinformaticscriteria provided, single submitter
Likely pathogenicgermlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes31not providednot providednot providedcase-control

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 Institute of Bioinformatics, SCV001439262.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian3not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not provided1not provided

Last Updated: Aug 21, 2021

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