Community Consultation

HGVS nomenclature falls under the responsibility of HUGO’s (HGVS Variant Nomenclature Committee (HVNC)), formerly known as the Sequence Variant Description Working Group (SVD-WG). The HVNC handles requests to change or extend HGVS nomenclature operating according to a charter defining its activities which includes a Community Consultation step. Any proposal made by the HVNC 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 HVNC. Comments to proposals should be addressed to “Varnomen @ HUGO-int.org”, Subject: HVNCxxx (xxx the proposal number, e.g. HVNC-011).

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

• SVD-WG010 (var distance)

  suggests to specify the HGVS nomenclature recommendations for the description of two variants which are close to each other

  Status: closed July 31, 2021 (decision pending).

Closed

• SVD-WG009 (conversion)

  suggested to simplify the HGVS nomenclature recommendations 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).