ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000005.9) (NC_000005.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
26822949 Lhota F et al (2016) performed SOLiD sequencing of 581 genes in 325 BRCA1/BRCA2/PALB2-negative high-risk Czech breast cancer patients and 105 controls. Two truncating variants, c.1503delA (p.K501Nfs*10) in 3 patients and c.1629delT (p.F543Lfs*4) in 2 patients (Fig 1, table 2), were found in patient group only. Per author, the allele frequencies of both variants in the patient?s group are significantly higher than that recorded in ExAC.

Haploinsufficiency phenotype comments:

Only one study reported increased frequency of germline loss-of-function variants in DNAJC21 in high risk breast cancer patient in comparison with population database, although biallelic loss of DANJC21 has been recently associated with hereditary bone marrow failure syndrome (Tummala H 2016, PMID 27346687, primary report), a condition which is characterized by onset of pancytopenia, and is cancer-prone.

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

Triplosensitivity phenotype comment:

no evidence of triplosensitivity