ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)

Haploinsufficiency phenotype comments:

Bialleic varants are associated with an adenomatous polyposis phenotype and progression to CRC as well as an increased risk for endometrial cancer (PMIDs: 25938944, 26559593, 3024817, 27720914, 27329137) Nik-Sainal S et al., (2016) (PMID 27135926): WGS of 560 breast cancers found a breast cancer patient who had a mutational pattern of unexplained mutational process turned out to carry a germline p.Gln287Ter mutation that was followed by hemizygous loss of the wild-type allele in the tumour. Heterozygotes could be at a (minor) increased risk of developing cancer by a loss-of-heterozygosity mechanism. However, more studies are needed to determine if the heterozygous LoF mutations confer increased risk of developing cancer(s).

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

Triplosensitivity phenotype comment:

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