Cytopenias and congenital anaemias

Gene: ASXL1

Comment on list classification: This gene is somatic only on the COSMIC Cancer Gene Census list, and not germline. Comment from PMID: 20408841 "exon 12 of ASXL1 was sequenced in our cohort of JMML patients, we found 2 heterozygous mutations (4%): a
nonsense (c.2077C>T p.Arg693X) and a frameshift (c.2535delC
p.Ser846ValfsX21) mutation (Fig 1A). That these mutations
prevent proper transcription into RNA suggests they represent
somatic and not germline events. CD3+ cells were used to confirm that the frameshift change was absent in the germline DNA; the non-sense mutation could not be confirmed. Neither mutation has been previously reported. LOH20q11 corresponding to ASXL1 locus was not detected in any of the cases studied, indicating that the corresponding mutations were heterozygous. We have also identified a number of polymorphisms present in
both tumour cells and CD3+cells (Fig 1A). The significance of these polymorphisms remains unclear but some have been observed in healthy controls."

Created: 22 Feb 2017, 4:37 p.m.

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelodysplastic syndrome (MDS), Paediatric

Publications

• 20408841
• 24255920

Variants in this GENE are reported as part of current diagnostic practice