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NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys) AND Intellectual disability, autosomal dominant 41

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 25, 2023
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:
RCV003313339.1

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)]

NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)

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.809T>G (p.Phe270Cys)
HGVS:
  • NC_000003.12:g.177047355A>C
  • NG_047195.1:g.154906T>G
  • NM_001321193.3:c.809T>G
  • NM_001321194.3:c.809T>G
  • NM_001321195.3:c.548T>G
  • NM_001374327.1:c.809T>G
  • NM_001374328.1:c.809T>G
  • NM_001374329.1:c.809T>G
  • NM_001374330.1:c.548T>G
  • NM_024665.7:c.809T>GMANE SELECT
  • NP_001308122.1:p.Phe270Cys
  • NP_001308123.1:p.Phe270Cys
  • NP_001308124.1:p.Phe183Cys
  • NP_001361256.1:p.Phe270Cys
  • NP_001361257.1:p.Phe270Cys
  • NP_001361258.1:p.Phe270Cys
  • NP_001361259.1:p.Phe183Cys
  • NP_078941.2:p.Phe270Cys
  • NC_000003.11:g.176765143A>C
Protein change:
F183C
Molecular consequence:
  • NM_001321193.3:c.809T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.809T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.548T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.809T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.809T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.809T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.548T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.809T>G - 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
SCV004012101HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 25, 2023) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - HudsonAlpha-AGHI-WGS, SCV004012101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Jul 22, 2023