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NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 16, 2019
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:
RCV001266394.4

Allele description [Variation Report for NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)]

NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)

Genes:
LOC126806878:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367 [Gene]
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.1108G>A (p.Asp370Asn)
HGVS:
  • NC_000003.12:g.177038112C>T
  • NG_047195.1:g.164149G>A
  • NM_001321193.3:c.1108G>A
  • NM_001321194.3:c.1108G>A
  • NM_001321195.3:c.847G>A
  • NM_001374327.1:c.1108G>A
  • NM_001374328.1:c.1108G>A
  • NM_001374329.1:c.1108G>A
  • NM_001374330.1:c.847G>A
  • NM_024665.7:c.1108G>AMANE SELECT
  • NP_001308122.1:p.Asp370Asn
  • NP_001308123.1:p.Asp370Asn
  • NP_001308124.1:p.Asp283Asn
  • NP_001361256.1:p.Asp370Asn
  • NP_001361257.1:p.Asp370Asn
  • NP_001361258.1:p.Asp370Asn
  • NP_001361259.1:p.Asp283Asn
  • NP_078941.2:p.Asp370Asn
  • NC_000003.11:g.176755900C>T
  • NM_024665.4:c.1108G>A
  • NM_024665.6:c.1108G>A
Protein change:
D283N
Links:
dbSNP: rs1057517933
NCBI 1000 Genomes Browser:
rs1057517933
Molecular consequence:
  • NM_001321193.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321194.3:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321195.3:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374327.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374328.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374329.1:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374330.1:c.847G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024665.7:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001444568Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Likely pathogenic
(Sep 16, 2019)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.

Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B.

Am J Med Genet A. 2018 Jul;176(7):1683-1687. doi: 10.1002/ajmg.a.38689. Epub 2018 May 19. Review. No abstract available.

PubMed [citation]
PMID:
29777588

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.

Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV; DDD Study., Wright CF.

Hum Mol Genet. 2016 Mar 1;25(5):927-35. doi: 10.1093/hmg/ddv625. Epub 2016 Jan 5.

PubMed [citation]
PMID:
26740553
PMCID:
PMC4754046

Details of each submission

From Ambry Genetics, SCV001444568.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024