Open for comments - SVD-WG001

Proposal

SVD-WG001 suggests to extend the current HGVS recommendations for the description of sequence variants with the proposal below. Comments can be sent to the HGVS/HVP/HUGO Sequence Variant Description Working Group (SVD-WG), addressed to "Varnomen @ variome.org", Subject: SVD-WG001. Comments need to be sent ultimately July 16, 2015.

No change

When a variant screen was performed but no change detected this can be described using the character "=" (equal to). The description should include the position(s) screened. Of course, as always, it is mandatory to mention the reference sequence used.

Examples;

• c.123G=
  indicates that a screen was performed to determine the identity of nucleotide c.123 showing it was a "G" like in the coding DNA reference sequence (the nucleotide was not changed).
• r.473u=
  indicates that a screen was performed to determine the identity of nucleotide r.473 showing it was a "u" like in the RNA reference sequence (the nucleotide was not changed)
• p.(Arg41=)
  indicates the predicted consequence of a change identified at DNA level (RNA not analysed) is that the amino acid residue "Arg41" does not change
  NOTE: depending on the amino acid, up to 4 different DNA changes may leave the amino acid unchanged
  
• c.[123G=;456A=;789C=]  -  indicates that a screen was performed to determine the identity of nucleotides c.123, c.456 and c.789 (all on the same allele) showing they were all not changed (equal to the coding DNA reference sequence).
  
  
• NM_001849.3(COL6A2):c.1_*1=  -  indicates that a screen was performed to determine the entire coding DNA sequence of the COL6A2 gene (nucleotides c.1 to c.*1 in NM_001849.3, exons only), no changes were detected.
  
• LRG_476(COL6A2):g.4950_39800=  -  indicates that a screen was performed to determine the entire genomic sequence of the COL6A2 gene (nucleotides g.4950 to g.39800 in LRG_476, exon ànd intron), no changes were detected.

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