Integrated VarCall model (combined SGE functional data)
Functional-data integration model combining two independent BRCA2 saturation-genome-editing (SGE) assay datasets (Huang et al. 2025; Sahu et al. 2025) and applying the result as PS3/BS3-type functional evidence under the ClinGen/ENIGMA BRCA1/BRCA2 variant classification specification.
Overview
Functional-data integration model combining two independent BRCA2 saturation-genome-editing (SGE) assay datasets (Huang et al. 2025; Sahu et al. 2025) and applying the result as PS3/BS3-type functional evidence under the ClinGen/ENIGMA BRCA1/BRCA2 variant classification specification.
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Evaluations and results
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| 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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Release 2026-10-06-fea06f63ac0e · Record review: source checked
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- Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification · Original source · 2026 published article (Nature Communications), published 2026-04-09; ENIGMA BRCA1/BRCA2 VCEP specification v1.2.0 applied
Technical metadata and extraction receipts
Stable ID: uc-clinical-20261005-hu-2026-integrated-varcall-config
- areas
- dna-genomes
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- clinical_research
- review
- method: automated_source_review; reviewer: Claude Sonnet clinical coverage worker (research-evidence intake); date: 2026-10-05; note: Transcription from inspected primary source. No execution, independent replication or human scientific review.; source id: uc-clinical-20261005-source-hu-2026
Related records
- configuration: Hu 2026 integrated functional-data classification evaluation