ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000016.9) (NC_000016.10)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
25505254 Aoude et al. (2015) screened individuals with cutaneous malignant melanoma who previously tested negative for CDKN2A, BAP1, POT1, BRCA2, CDK4, and TERT promoter pathogenic variation as well as a control cohort for germline variation in shelterin genes. ACD p.Q320X (NM_001082486 c.958C>T) was identified in one family and observed in all four affected individuals available for testing. This nonsense variation occurs in POT1 binding domain, which seems to be enriched for missense mutation in the CMM cohort, and is not in the penultimate nor final exon.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

No evidence for triplosensitivity.