ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Biallelic variants of UBE2T, including compound heterozygous variants have been identified with Fanconi anemia, complementation group T (FANCT), an autosomal recessive condition. Virts et al 2015 (PMID: 26085575): Analysis of germline DNA of 814 normal individuals identified the heterozygous aluY-mediated deletion of UBE2T exons 2-6 in two normal individuals. Duplication of exons 2-6 were not found in normal individuals. They also tested 850 breast cancer patients who are German, and did not find any patient with either deletion or duplication of exons 2?6 in UBE2T. This suggesting aluY-mediated recombinations within the UBE2T locus are rare and not associated with an increased breast cancer risk. To further define the role of UBE2T germline mutations in patients with breast/ovarian cancer, they performed WES on 450 BRCA1/2 WT high-risk breast cancer patients. In a female patient <50 years of age, a novel frameshift mutation in UBE2T, c.415_418insAGCC, was detected and confirmed by amplicon resequencing. In summary, UBE2T might be a rare cancer susceptibility gene, but there is not enough evidence so far.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No evidence for triplosensitivity