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NM_024665.7(TBL1XR1):c.845T>C (p.Leu282Pro) AND Intellectual disability, autosomal dominant 41

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000211101.3

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.845T>C (p.Leu282Pro)]

NM_024665.7(TBL1XR1):c.845T>C (p.Leu282Pro)

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.845T>C (p.Leu282Pro)
Other names:
L282P
HGVS:
  • NC_000003.12:g.177047319A>G
  • NG_047195.1:g.154942T>C
  • NM_001321193.3:c.845T>C
  • NM_001321194.3:c.845T>C
  • NM_001321195.3:c.584T>C
  • NM_001374327.1:c.845T>C
  • NM_001374328.1:c.845T>C
  • NM_001374329.1:c.845T>C
  • NM_001374330.1:c.584T>C
  • NM_024665.7:c.845T>CMANE SELECT
  • NP_001308122.1:p.Leu282Pro
  • NP_001308123.1:p.Leu282Pro
  • NP_001308124.1:p.Leu195Pro
  • NP_001361256.1:p.Leu282Pro
  • NP_001361257.1:p.Leu282Pro
  • NP_001361258.1:p.Leu282Pro
  • NP_001361259.1:p.Leu195Pro
  • NP_078941.2:p.Leu282Pro
  • NC_000003.11:g.176765107A>G
Note:
NCBI staff reviewed the variant in Supplementary Table 7 of the paper O'Roak et al., 2012 (PubMed 23160955) to establish the HGVS expression for this allele.
Protein change:
L195P; LEU282PRO
Links:
OMIM: 608628.0002; dbSNP: rs1716457622
NCBI 1000 Genomes Browser:
rs1716457622
Molecular consequence:
  • NM_001321193.3:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.584T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.584T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.845T>C - 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
SCV000268058OMIM
no assertion criteria provided
Pathogenic
(Dec 21, 2012) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, et al.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

PubMed [citation]
PMID:
22495309
PMCID:
PMC3350576

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, et al.

Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15.

PubMed [citation]
PMID:
23160955
PMCID:
PMC3528801

Details of each submission

From OMIM, SCV000268058.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a girl with autosomal dominant intellectual developmental disorder-41 (MRD41; 616944) and autistic features, O'Roak et al. (2012) identified a de novo heterozygous mutation in the TBL1XR1 gene, resulting in a leu282-to-pro (L282P) substitution. The patient had a nonverbal IQ of 47. Functional studies of the variant were not performed. The patient was from a cohort of 209 parent-child trios exhibiting sporadic autism spectrum disorders who underwent whole-exome sequencing. The same patient was also reported by O'Roak et al. (2012).

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

Last Updated: Dec 24, 2023