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Add more complete coverage of ACMG categories #473

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julesjacobsen opened this issue Feb 3, 2023 · 1 comment
Closed
4 tasks done

Add more complete coverage of ACMG categories #473

julesjacobsen opened this issue Feb 3, 2023 · 1 comment

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@julesjacobsen
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julesjacobsen commented Feb 3, 2023

These will require additional data, so will fit well with the 14.0.0 data-upgrade theme.

  • PS1 - "Same amino acid change as a previously established pathogenic variant regardless of nucleotide change" - Needs AA and position info from ClinVar.
  • PM5 - "Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before" - Needs AA and position info from ClinVar.

  • PP2 - "Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease" - Requires gnomAD gene constraint z-score and ClinVar gene metrics for numbers of missense/nonsense variants in P/LP, B/LB categories
  • BP1 - "Missense variant in a gene for which primarily truncating variants are known to cause disease" - ClinVar required
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@julesjacobsen julesjacobsen changed the title Investigate adding more complete coverage of ACMG categories Add more complete coverage of ACMG categories Nov 1, 2023
julesjacobsen added a commit that referenced this issue Nov 15, 2023
…nnotations on ClinVarData at build time.
julesjacobsen added a commit that referenced this issue Nov 20, 2023
…nnotations on ClinVarData at build time.
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