Selected article for: "de novo variant and function loss"
Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
  • Document date: 2018_12_13
    • ID: j5jrpbst_44
    Snippet: The compound heterozygous variants in PRTG, TNC, and MACF1 are similarly variable in predicted pathogenicity, with CADD scores ranging from between less than one to thirty-eight. PRTG and TNC both have constraint metrics indicative of a high tolerance to both missense and loss-of-function variants, while MACF1 is moderately intolerant of missense variants (z = 2.63) and extremely intolerant of loss-of-function variants (pLI = 1.0). Interestingly,.....
    Document: The compound heterozygous variants in PRTG, TNC, and MACF1 are similarly variable in predicted pathogenicity, with CADD scores ranging from between less than one to thirty-eight. PRTG and TNC both have constraint metrics indicative of a high tolerance to both missense and loss-of-function variants, while MACF1 is moderately intolerant of missense variants (z = 2.63) and extremely intolerant of loss-of-function variants (pLI = 1.0). Interestingly, aside from the 3'UTR variant in GLRA2, none of the de novo variants in the Epi4k participants with MACF1 compound heterozygous variants are in genes associated with neurological disease or predicted with confidence to have a negative impact on gene function. This, in addition to MACF1's intolerance to missense or nonsense variants, is supportive of the pathogenicity of the biallelic variants in the gene. author/funder. All rights reserved. No reuse allowed without permission.

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