Community Consultation

HGVS nomenclature falls under the responsibility of the (HGVS nomenclature Sequence Variant Description Working Group (SVD-WG)). The SVD-WG handles requests to change or extend HGVS nomenclature operating according to a charter defining its activities (see HVP website) which includes a Community Consultation step. Any proposal made by the SVD-WG will be published on this web page. When published, the proposal is open for comments for a 2-month period. Everybody interested is asked to study the proposal and send comments, positive or negative, to the SVD-WG. Comments to proposals should be addressed to “Varnomen @ variome.org”, Subject: SVD-WGxxx (xxx the proposal number, e.g. SVD-WG001).

To ensure you do not miss a new proposal please register for e-mail notification). Those registered will also receive notification when the HGVS nomenclature version number changes. The latest version of the HGVS recommendations can be found at the Versioning page.

Open

There are currently no open issues.

Closed

• SVD-WG009 (conversion)

  suggested to simplify the HGVS nomenclature by discontinuing the use of the variant type “con” to describe conversions

  Status: accepted. Closed Oct.31 (2020). Opened Aug,4 (2020).

• SVD-WG008 (Reference Sequences)

  suggested to specify the HGVS recommendations for acceptable Reference Sequences (see updated Reference Sequences page)

  Status: accepted. Closed Sep.30 (2019). Opened Jul.20 (2019).

• SVD-WG007 (RNA fusion)

  suggests to extend the HGVS recommendations with a format to describe RNA fusion transcripts following the format to describe a fusion between two DNA molecules (translocations), i.e. using ”::”

  Status: accepted. Closed Jun.30 (2019). Opened Apr.10 (2019).

• SVD-WG006 (circular DNA)

  suggests to extend the HGVS recommendations allowing a “o.” prefix for circular genomic reference sequences.

  suggests to add the exception for circular genomic reference sequences (“m.” and “o.” prefix) to allow NC_012920.1:m.16563_13del

  Status: accepted. Closed Oct.30 (2018). Opened Aug.1 (2018).

• SVD-WG005 (gom/lom)

  suggests to extend the HGVS recommendations to allow description of changes in general methylation status.

  Status: accepted. Closed Dec.31 (2016). Opened Oct.20 (2016).

• SVD-WG004 (ISCN<>HGVS)

  suggested to extend the recommendations to cover the description of structural variants, esp. translocations and chromothripsis.

  Status: accepted. Closed Jan.15 (2016). Opened Nov.10 (2015).

  NOTE: since SVD-WG004 covers variants that may become rather complex to describe and will be difficult to implement the proposal has been accepted as the “named extension ISCN” (named extension).

• SVD-WG003 (exon del/dup)

  suggested to describe exon deletions/duplications using the format c.(233+1_234-1)_(1234+1_1235-1)del.

  Status: Oct.6 (2015) new proposal to be made. Closed Jul.16 (2015). Opened May 14 (2015).

• SVD-WG002 (n. prefix)

  suggested to accept a non-coding DNA reference sequence (n.345A>G, n.224+1G>T, n.696-38544del).

  Status: Oct.6 (2015) accepted. Closed Jul.16 (2015). Opened May 14 (2015).

• SVD-WG001 (no change)

  suggested to allow reporting of variants that were tested but found to be unchanged (g.50377648A=, c.1823A=, r.377u=, p.Val76=).

  Status: Oct.6 (2015) accepted. Closed Jul.16 (2015). Opened May 14 (2015).