ClinGen Dosage Sensitivity Curation Page

HRAS

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

While several articles describe individuals with duplication of several amino acids, the functional result from these duplications appears to be gain-of-function on the gene product. Xu et al (PMID: 25677562) describe a patient with a de novo duplication of amino acids 63-69 in a patient with Costello syndrome. Lorenz et al (PMID: 23335589) described the same duplication in another female patient with Costello syndrome, and their functional studies showed increased HRAS activation. No large CNVs have been reported for HRAS in association with Costello or other RASopathies.

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