Sequence variant descriptions - Community Concultation

(Translated by https://www.hiragana.jp/)
Sequence variant descriptions - Community Concultation

Open for comments

Last modified November 10, 2015

NOTE: this website is frozen since May 1, 2016. It has been replaced by a new version at http://www.HGVS.org/varnomen. These pages serve as archival copy only.

Introduction

The recommendations for the description of sequence variants are currently under the authority of the Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the HUman Genome Organisation (HUGO). Together the organisations established the HGVS/HVP/HUGO Sequence Variant Description Working Group (SVD-WG) operating with the help of the HVP office (see HVP-website). Basically the committee takes care of this website, answers questions (contact: "VarNomen @ HGVS.org" or "VarNomen @ variome.org"), handles requests to change/extend the recommendations, prepares proposals for community consultation and finally publishes new versions of the standards.

All proposals made by the Sequence Variant Description Working Group (SVD-WG) open for Community Consultation will be listed on this page. After publication, each proposal will be open for comment for a 2 month period. When you want to make sure that you receive notification of every proposal, please register at the HVP office (mail to Timothy Smith (Tim @ Variome.org), "Subject: "SVD-WG discussion list").
Comments to proposals open for Community Consultation should be addressed to "Varnomen @ variome.org", Subject: SVD-WGxxx (xxx being the proposal number, e.g. SVD-WG001).

Open for comments

date 2015-11-02 004 - ISCN <> HGVS (open 2015-11-10, closed 2016-01-15)
the proposal has been made to extend the recommendations to cover the description of structural variants, esp. translocations and chromothripsis.

Closed

Undecided 003 - Exon del/dup descriptions (open 2015-05-14, closed 2015-07-16)
the proposal has been made that deletions (duplications) detected by MLPA tests (testing all exons) should be described using the format c.(233+1_234-1)_(1234+1_1235-1)del.
Accepted 002 - "n." prefix (open 2015-05-14, closed 2015-07-16)
the proposal has been made to allow the reporting of variants in relation to a non-coding DNA reference sequence using the format n.345A>G, n.224+1G>T, n.696-38544del.
Accepted 001 - No change (open 2015-05-14, closed 2015-07-16)
the proposal has been made to allow the reporting of variants that were tested but found to be unchanged using the format g.50377648A=, c.1823A=, r.377u=, p.Val76=.