rs768868045

This variant is located in the ASXL1 gene.

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ClinVar annotation

Conflicting Classifications
3 submitters3 publications

not provided; ASXL1-related disorder

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Research that mentions this SNP (1)

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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
Case reportN=1Colleen M. Carlston et al.(2017)· Human Mutation

This case report describes a 6-year-old female with Bohring-Opitz syndrome harboring an ASXL1 c.1210C>T (p.Arg404Ter) variant (rs373145711) that was unexpectedly present 7 times in the ExAC database. Analysis of allele balances revealed most ASXL1 truncating variants in ExAC show evidence of somatic mosaicism (median allele balance 22%) rather than germline inheritance, a pattern associated with age-related clonal hematopoiesis. This finding resolves the apparent contradiction between the pathogenicity of ASXL1 truncating variants in syndromic disease and their unexpected prevalence in control databases.

Traits studied:Bohring-Opitz syndromeClonal hematopoiesisMyeloid malignanciesTatton-Brown-Rahman syndrome
PubMedDOIMetascience Observatory

About ASXL1

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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