The BRCA Exchange development team is always looking for ways to improve the quality of service of the exchange. One small yet significant part of that is URLs or hyperlinks that reference variants in the database. Historically, these variants have been internal IDs that are specific to the variant and the version of the variant’s data. That meant that whenever the data on a variant was updated, the public-facing ID for that variant was updated as well. For example, consider the BRCA2 variant c.8168A>C. When it was updated in May 2023, its internal ID was 772930, and its public-facing URL was https://brcaexchange.org/variant/772930. When the variant was next updated in December 2023, its new internal ID became 974221 and its public-facing URL became https://brcaexchange.org/variant/974221. While there was functionality to conditionally redirect users to the latest data on the variant, this behavior made it a bit more awkward to bookmark variants on BRCA Exchange. Additionally, while we’d implemented functionality early on to allow users to view legacy variant information, the feedback that we gathered was that this legacy information was not that useful (and was costly to maintain, for technical reasons that we’ll go into another time). As of Release 63, the latest data for the BRCA2 variant c.8168A>C will always be accessible at the link https://brcaexchange.org/variant/CA025483. Even when we update the data on that variant, that link will continue to work.
Some readers of this blog might recognize that the link htttps://brcaexchange.org/variant/CA025483 contains a ClinGen Allele Registry identifier, CA025483. The ClinGen Allele Registry provides unique, persistent identifiers for each variant, with links to a wealth of external resources, and is stable across genome builds and reference sequences: i.e. CA025483 indexes the variant across the GRCh38 genome (NC_000013.11:g.32363370A>C), the GRCh37 genome (NC_000013.10:g.32937507A>C), the MANE Select transcript NM_000059.4:c.8168A>C and other sequences. Each variant in BRCA Exchange corresponds to exactly one variant in the ClinGen Allele Registry.
For anyone who has already saved bookmarks to variants in BRCA Exchange, don’t worry – when you come to the site via one of those older hyperlinks, you will be redirected automatically to the newer hyperlink, with the latest data on the variant. However, we encourage you to update your bookmarks to the new links.
As always, we love to hear from our users! If you have any feedback, you can reach out to us via the Contact Us link at the bottom of the site, and we will do our best to respond in a timely manner.
