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UKCGG/CStAG statement re Exception variants v 2
There are certain genes in which variability in penetrance associated with different variants is such that not all variants will be reported by NHS laboratories/UK practice.
The list of exceptions for reporting is reviewed by UKCGG and CanVIG, and can be viewed by downloading the file here below. This is updated as required in line with changing evidence/laboratory best practice guidelines.
With emerging evidence, and as variants are added to the exception list, the list will be updated and a new version published. Old versions will be retired but will continue to be accessible here below for reference.
| Version # (amendment) | Date of publication |
| 1 (retired) | 08/04/2024 |
| 1.1 (correction of typo)(retired) | 12/07/2024 |
| 1.2 (addition of CanVIG logo)(retired) | 31/10/2024 |
| 2 (comment regarding lack of feasibility of maintenance of white list of exception variants) | 09/10/2025 |
UKCGG/CStAG statement on reporting practice for variants in “moderate risk” breast cancer susceptibility genes
Please see statement here below regarding reporting practice for variants in “moderate risk” breast cancer susceptibility genes.
Please note:
- This guidance does not apply to interpretation/reporting of variants in ATM, for which separate guidance exists (please see UKCGG/CStAG statement on reporting practice for variants in ATM v.2.2).
- This document supersedes previously issued UKCGG statement on reporting practice for missense variants in CHEK2.
- This document does not pertain to reporting of variants in genes associated with ovarian cancer susceptibility (RAD51C, RAD51D, BRIP1), which require different consideration given relative lack of available large-scale data demonstrating any difference in ovarian cancer risks between truncating and non-truncating variants.
| Version # (amendment) | Date of publication |
| 1 | 08/10/2025 |
UKCGG/CStAG statement on reporting practice for variants in ATM
| Version # (amendment) | Date of publication |
| 1 (retired) | 31/10/2024 |
| 2 (retired) | 29/07/2025 |
| 2.2 (minor change to reflect that case:control data should be used as first step in triaging of non-standard variants to determine if targeted testing indicated) | 08/10/2025 |
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