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Other#

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.

Syntax#

Syntax sequence_identifier ":" coordinate_type "." position_or_range "="
Examples
  • NC_000001.11:g.1234=
  • NC_000001.11:g.1234_2345=
Explanation of Symbols
  • coordinate_type: The type of molecule and coordinate system; see the general recommendations.
  • position_or_range: The position OR range
  • sequence_identifier: an identifier for a sequence from a recognized database
See also explanation of grammar used in HGVS Nomenclature.

Notes#

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.