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NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp) AND Intellectual disability, autosomal dominant 41

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 19, 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:
RCV001706771.1

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)]

NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)

Genes:
TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
TBL1XR1-AS1:TBL1XR1 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.32
Genomic location:
Preferred name:
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)
HGVS:
  • NC_000003.12:g.177047524C>T
  • NG_047195.1:g.154737G>A
  • NM_001321193.3:c.728G>A
  • NM_001321194.3:c.728G>A
  • NM_001321195.3:c.467G>A
  • NM_001374327.1:c.728G>A
  • NM_001374328.1:c.728G>A
  • NM_001374329.1:c.728G>A
  • NM_001374330.1:c.467G>A
  • NM_024665.7:c.728G>AMANE SELECT
  • NP_001308122.1:p.Gly243Asp
  • NP_001308123.1:p.Gly243Asp
  • NP_001308124.1:p.Gly156Asp
  • NP_001361256.1:p.Gly243Asp
  • NP_001361257.1:p.Gly243Asp
  • NP_001361258.1:p.Gly243Asp
  • NP_001361259.1:p.Gly156Asp
  • NP_078941.2:p.Gly243Asp
  • NC_000003.11:g.176765312C>T
  • NM_024665.5:c.728G>A
Protein change:
G156D
Links:
dbSNP: rs2108480284
NCBI 1000 Genomes Browser:
rs2108480284
Molecular consequence:
  • NM_001321193.3:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 41 (MRD41)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41
Identifiers:
MONDO: MONDO:0014842; MedGen: C4310784; Orphanet: 2823; OMIM: 616944

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001934250Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 19, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001934250.1

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

Description

This variant was identified as de novo (maternity and paternity confirmed).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023