--- title: User-Provided Phenotypic Information for Germline Queries description: VarSome users are now able to provide phenotypic information to help provide a more accurate ACMG classification of germline variants. image: https://lh4.googleusercontent.com/Ltc5UbCS7L2N97Cp4YNJLGNH1ieg5wVWkZLIzYF0GHPfr28ovoQ6Dbel6Ek2tm5Hbk5E327hYQV0NmrYgk3e6PG7Kie9ZihqkWa-LtDAncKaItR_cBUdYTFfjbAz-uJlk3lpOG-Y --- [![VarSome](https://updates.varsome.com/hubfs/VarSome_February2020%20Theme/Images/logo.png)](https://varsome.com/) - Editions - [More about VarSome.com](https://varsome.com/varsome-editions/varsome/) - [More about VarSome Premium](https://varsome.com/varsome-editions/varsome-premium/) - [More about VarSome Clinical](https://varsome.com/varsome-editions/varsome-clinical/) - [Learn more about APIs](https://varsome.com/information/varsome-api-info/) - About - Resources - [Library](https://varsome.com/library/) - [Documentation](https://docs.varsome.com/) - [Query types](https://varsome.com/about/examples/) - [IVDR](https://landing.varsome.com/ivdr-whitepaper) - [Germline Classification](https://varsome.com/about/resources/acmg-implementation/) - [Somatic Classification](https://varsome.com/about/resources/amp-implementation/) - Partners - [Distributors](https://varsome.com/distributors/) - [Partners](https://varsome.com/partners/) - [Become a partner](https://landing.varsome.com/become-varsome-partner) - General - [The Company](https://saphetor.com/about/) - [Cite VarSome](https://varsome.com/about/varsome-citations/) - [Link to VarSome](https://varsome.com/how-do-i-create-link-varsome/) - [Contact](https://landing.varsome.com/contact) - [Community](https://varsome.com/community-contributions/) - [Blog](https://blog.varsome.com/) [Platform Updates](https://updates.varsome.com/en/tag/platform-updates) # User-Provided Phenotypic Information for Germline Queries By [Richard Meyer](https://updates.varsome.com/en/author/richard-meyer) on November, 18 2021 ### Categories - Select a Topic - [All](https://updates.varsome.com/en) - [Platform Updates](https://updates.varsome.com/en/tag/platform-updates) - [VarSome Clinical](https://updates.varsome.com/en/tag/varsome-clinical) - [VarSome API](https://updates.varsome.com/en/tag/varsome-api) - [Release](https://updates.varsome.com/en/tag/release) - [VarSome.com Premium](https://updates.varsome.com/en/tag/varsome-com-premium) - [VarSome.com](https://updates.varsome.com/en/tag/varsome-com) - [ACMG](https://updates.varsome.com/en/tag/acmg) ### Stay up to date ##### Search The Blog [Back to main Blog](https://updates.varsome.com/en) ![](https://updates.varsome.com/hs-fs/hubfs/richard.jpg?height=100&name=richard.jpg) ###### Richard Meyer CTO [VarSome 10.3](https://updates.varsome.com/en/varsome-10.3-release-notes) allows for the input of additional information related to queries. To improve your [ACMG classification](https://landing.varsome.com/implementation-of-acmg-guidelines-whitepaper) for germline variants, a new pop up now appears when you make your search. This enables you to select the option to input either Germline or Somatic phenotypic information. This has previously only been an option for somatic variants.  Entering this data is optional and if you do not have any phenotype information leave the screen blank and click Search.   ![](https://lh4.googleusercontent.com/Ltc5UbCS7L2N97Cp4YNJLGNH1ieg5wVWkZLIzYF0GHPfr28ovoQ6Dbel6Ek2tm5Hbk5E327hYQV0NmrYgk3e6PG7Kie9ZihqkWa-LtDAncKaItR_cBUdYTFfjbAz-uJlk3lpOG-Y) Adding optional phenotype information associated with this variant will enable us to trigger ACMG rules with greater accuracy.   For example, if you are able to input “confirmed de novo” for your variant, we will now be able to trigger the PS2 rule:  ![](https://lh6.googleusercontent.com/r7thaYBVkGE06idJDY_VhIqN82ZXokxwcbd4dKY60gUWBdAF7xVN5Zm6ty2q7IknBeRUR8OX9e0YzWbFxqxOTAUJ_MXDiZTeRgto7YKSvF2WxlLeCS134Em7wiYM9xIvMrsgXJOj) The blue question marks explain the ACMG rules that will be affected by your input: ![](https://lh3.googleusercontent.com/D0EctkX5qjSMnmk39YAsgVNzNdHod1aImcvYpjJ8H9H1oSaIaj53TnBGSqDEvnp9RCpxp0uScjkykZ33kcdlsSSW8ZYtrLIl57AzIQ0iIwttLAD8_F5-r-oOHsnscjqL66qnEdKZ) Phenotype information will then be displayed in the classification component and used to improve ACMG classification results: ![](https://lh4.googleusercontent.com/mPMoHsTKTPdAD7xd1jSiFbA_afgssGo6rq81gReoDsWOt7uVNPN1C-LB2BHERzXQfTyo6Y48igLWISAVtIIsSajFDf0DNpHELfXxDs6f8jjI7yvtNqTxY_v4AoGAdS1exgeL4MMu)   It is possible to edit the optional patient information by clicking the Sample Information link: ![](https://lh5.googleusercontent.com/8jzvRHYab2vOUBhhyUEDk2XI6cADXeP4K8paIu_dO1_7wi391sAyNH-0IQjN-dbPExAwkb6LuNXhAkSxbeecE1mfYxBF32H0HpeV10dm449Exo4kBbYKXYG3KV9b2WPAKZUpf-tS)   Further Information and Support Not already a [VarSome Premium](https://varsome.com/varsome-editions/varsome-premium/) user? Get in touch and ask for a [free trial](https://landing.varsome.com/contact). As ever we hope you find these changes and improvements helpful, we’d love to hear any suggestions you may have, support is available as usual from [support@varsome.com](https://docs.varsome.com/en/kb-tickets/new)   \- The VarSome Team [Previous Post](https://updates.varsome.com/en/varsome-api-update-v-10.2.6) [Next Post](https://updates.varsome.com/en/visualizing-cnvs-in-varsome) #### Submit a Comment ### Stay up to date ## Latest News [See all blog posts](https://blog.varsome.com) ![](https://updates.varsome.com/hubfs/VarSome_February2020%20Theme/Images/logo.png) - VarSome Suite - [VarSome.com](https://saphetor.com/varsome-editions/varsome/) - [VarSome Premium](https://saphetor.com/varsome-editions/varsome-premium/) - [VarSome Clinical](https://saphetor.com/varsome-editions/varsome-clinical/) - [VarSome API](https://varsome.com/information/varsome-api-info/) - System Status - [System Status](http://status.saphetor.com/) - Resources - [Query Examples](https://varsome.com/about/examples/) - [Documentation](https://docs.varsome.com/) - [Help Center](https://docs.varsome.com/en) - [Cite VarSome](https://news.varsome.com/en/cite-varsome-the-human-genomic-variant-search-engine) - The Company - [About Saphetor SA](https://saphetor.com/about/) - [News](https://blog.varsome.com) - [Distributors](https://landing.varsome.com/distributors) - [Contact](https://saphetor.com/contact/) - Legal - [Terms of Use](https://varsome.com/terms/) - [Privacy Policy](https://varsome.com/privacy/) VarSome Suite is brought to you by [Saphetor SA](https://saphetor.com). © 2024 Saphetor SA – All Rights Reserved.