Aggregate Variant-Level Data Fields Shared among Network

  • Alias(es)
  • Allele name
  • Amino Acid change
  • Amino Acid change type
  • DNA change
  • DNA change type
  • Compound type (in cis, in trans)
  • Gene Region
  • Transcript ID
  • Alignment(s) (all validated alignments from source)
    • Genome build name
    • Start and End positions
    • Wild type sequence
    • Variant sequence
  • Nested variant(s) (if parent variant is compound)
    • Same as variant info, but without interpretation revisions
  • Reference(s)
  • Abstract
  • Comments
  • Author
  • Journal Details
  • Publication Year
  • Source (Identifier/Type)
  • Title
  • URL (if type is URL)
  • Gene Identifier (first Gene Identifier with a code system associated to the variant’s gene)
  • External ID (A unique identifier which makes the record of that variant within a certain lab totally unique)
  • Report Allele Name
  • Report DNA Change
  • Report AA Change
  • Splicing Impact (if available)
  • dbSNP ID
  • # of Families
  • # of Reports
  • Source (ID/Name) (Modifiable fields that are intended to record the source of the variant information when it was originally entered. Typically this would be a database [e.g., COSMIC, dbSNP, CardioGenomics] and the identifier assigned to the variant in that database)
  • Current Interpretation Revision Approval
    • Note 1: If variant currently has a proposed interpretation (i.e. has not been approved) only the date & time of the proposal will be displayed.
    • Note 2: Depending on the configuration of the receiving instance, only interpretations related to existing diseases in the receiving instance are processed.
    • Content Approval (by User, on Date)
    • Approval (by User, on Date)
    • Reason for Update
    • (For each interpretation)
      • Category Type (Med Sig, Unk. Sig, Incidental)
      • Category Code
      • Inheritance
      • Interpretation Text
      • List of Disease Codes (if applicable)

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