Community Consultation


In the original proposal the descriptions included the nucleotide (A, C, G or T) that was identified as not changed (g.50377648A=, c.1823A=, n.611T=). It should be noted that, following existing HGVS standards (e.g. g.123456del, c.123dup) this addition is not necessary; g.50377648=, c.1823= and n.611= are correct and preferred HGVS descriptions.

Proposal SVD-WG001 (no change)

The proposal suggests to extend the HGVS recommendations to allow description of variant tested but no change detected using the character “=” (equal to); g.50377648=, m.15366=, c.1823=, n.611=, r.377=, p.Val76=. The description should include the position(s) screened (nucleotides or amino acids) and the reference sequence used should always be mentioned.





Original proposal