6,383 BRCA2 single-nucleotide variants in the C-terminal DNA-binding domain (exons 15-26), combining saturation genome editing (SGE) functional data from two prior independent studies (Huang et al. 2025; Sahu et al. 2025).
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Release 2026-10-06-fea06f63ac0e · Evidence verified: Not verified
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1 evaluation · 1 result. Different protocols are not a single leaderboard.
Applied filters: All linked evaluations
| Tested configuration | Protocol and dataset | Finding | Evidence and details |
|---|---|---|---|
| Configuration: Integrated VarCall model (combined SGE functional data) | Protocol: Hu 2026 BRCA2 functional-integration classification yield Dataset: Hu 2026 BRCA2 integrated SGE functional-assay cohort | 92.8% (5926/6383) classified_as_p_lp_or_b_lb_fraction percent · higher Uncertainty: Not reported Coverage: Not reported scored / Not reported eligible | Author-reported evaluation · Source checkedMethods, coverage and sourceHu 2026 integrated functional-data classification evaluation Not reported Aggregation: Not reported Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification · Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications": "Thus, 92.8% (5926 of 6383) overall... were classified as P/LP or B/LB." |
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5 evidence rows matching the loaded filters
| Property and statement | Original source and location | Review and provenance |
|---|---|---|
| attributes.missense_subset_count 4438 Context-only references | Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Version: 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.source_locator Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Context-only references | Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Version: 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| attributes.total_snv_count 6383 Context-only references | Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Version: 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| description 6,383 BRCA2 single-nucleotide variants in the C-terminal DNA-binding domain (exons 15-26), combining saturation genome editing (SGE) functional data from two prior independent studies (Huang et al. 2025; Sahu et al. 2025). Context-only references | Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Version: 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
| name Hu 2026 BRCA2 integrated SGE functional-assay cohort Context-only references | Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification Results, "Incorporation of the 'Integrated VarCall model' functional data into the BRCA1/2 ClinGen variant classification specifications" Version: 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied | not individually reviewed No individual claim review recorded Audit detailsField: Source artifact SHA-256: Hash scope: Hash scope not separately documented; inspect source record |
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Release 2026-10-06-fea06f63ac0e · Record review: source checked
Stable ID: uc-clinical-20261005-hu-2026-cohort