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Definition

No change: a sequence was analysed but no variant was detected. Mosaic: the occurrence in one individual of two or more cell populations, derived from a single zygote, with different sequences. Chimeric: the occurrence in one individual of two or more cell populations, derived from different zygotes, with different sequences.

Description

Format: "prefix""position(s)_analysed""=", e.g. g.123_234=

"prefix" = reference sequence used = g. "position(s)_analysed" = position nucleotide or range of nucleotides analysed = 123_234 "=" = not changed

Notes

  • prefix reference sequences accepted are g., m., c. and n. (genomic, mitochondrial, coding DNA and non-coding DNA).
  • see SVD-WG001 (no change) for the original proposal

Examples

  • no change

    • one nucleotide
      • NC_000023.11:g.32867908=: a screen was performed showing nucleotide g.32867908 was a "G" as in the genomic reference sequence (the nucleotide was not changed)
      • LRG_199t1:c.123=: a screen was performed showing nucleotide c.123 was a "C" as in the coding DNA reference sequence (the nucleotide was not changed): NOTE: the description c.123C>C is not allowed
    • several nucleotides
      • NC_000023.11:g.32867908_32867923=: a screen was performed showing nucleotides g.32867908 to g.32867923 were as in the genomic reference sequence (the nucleotides were not changed)
      • LRG_199t1:c.123_145=: a screen was performed showing nucleotides c.123 to c.145 were as in the coding DNA reference sequence (the nucleotides were not changed)
      • NM_004006.2:c.[123=;456=;789=]: a screen was performed showing nucleotides c.123, c.456 and c.789 (all on the same allele) were identical to the coding DNA reference (the nucleotides were not changed)

  • methylation : descriptions based on Community Consultation proposal SVD-WG005

    • NC_000011.10:g.1999904_1999946|gom: the sequence from position g.1999904 to g.1999946 showed a gain of methylation ("|gom")
    • NC_000011.10:g.1999904_1999946|lom: the sequence from position g.1999904 to g.1999946 showed a loss of methylation ("|lom")
    • NC_000011.10:g.1999904_1999946|met=: the sequence from position g.1999904 to g.1999946 showed normal methylation ("|met=")

  • mosaicism

    • LRG_199t1:c.85=/T>C: a mosaic case where at position 85 besides the normal sequence (a T, described as "=") also chromosomes are found containing a C (c.85T>C): NOTE: irrespective of the frequency in which each nucleotide was found, the reference is always described first
  • chimerism
    • NM_004006.2:c.85=//T>C: a chimeric case, i.e. the sample is a mix of cells containing c.85= and c.85T>C.: NOTE: irrespective of the frequency in which each nucleotide was found, the reference is always described first

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