Accepted - SVD-WG001

Proposal

The proposal SVD-WG001 (No change) suggested to extend the HGVS recommendations to allow that when a variant screen was performed but no change detected this can be described using the character "=" (equal to). The Community Consultation closed on July 16 (2015). All comments were collected and discussed by the SVD-WG on Oct.6. Since no major objections were received the proposal was accepted. The proposal will be part of the HGVS recommendations version 2.1511.

No change

When a variant screen was performed but no change detected this should be described using the character "=" (equal to). The description should include the position(s) screened.
NOTE: the reference sequence used should always be mentioned.

Examples;

• DNA
• 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).
  NOTE: the description c.123G>G is not allowed
• g.11890634G= indicates that a screen was performed to determine the identity of nucleotide g.11890634G= showing it was a "G" like in the genomic reference sequence (the nucleotide was not changed).
• 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).
• c.[633G>A];[633G=] describes a heterozygous case where one chromosome carries variant c.633G>A and the other chromosome is not changed at that position (e.g. in an autosomal recessive condition)
• 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.
  
• RNA
• r.473u=  / c.473T=
  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)


• protein
• p.(Arg41=)  / c.123G>A
  indicates the predicted consequence of the change c.123G>A identified at DNA level (RNA not analysed) is that the amino acid residue "Arg41" does not change.
  NOTE: the description p.(Arg41=) should always be given together with the description of the change at DNA level (depending on the amino acid, up to 5 different DNA changes may leave the amino acid unchanged).
  

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