BRCA2 Clinical Variant Interpretation Comparing Two SGE Functional Studies

Clinical variant interpretation data for 88 BRCA2 variants from 526 patients, comparing results from two saturation genome editing (SGE) functional studies. The dataset was created by Ju Hyeon Shin and last updated on 2026-04-23. It includes reassessments based on ClinGen BRCA1/2 guidelines and multifactorial likelihood analysis, leading to reclassification of 93.1% of variants of uncertain significance.

Use Cases

• Benchmarking functional assay consistency based on the comparison of HAP1 and mouse embryonic stem cell SGE results.
• Reclassifying variants of uncertain significance based on concordant functional evidence (PS3/BS3 assignments).
• Investigating potentially hypomorphic variants based on the 13 variants with discordant functional results.
• Assessing major error rates for functional assays when results are discordant with clinical data.

Strengths

• Includes 88 BRCA2 variants from 526 patients, providing a clinical cohort for validation.
• Integrates 24 years of clinicopathological data from a single institution for comparison.
• Enables direct comparison of two major SGE functional studies (HAP1 and mouse embryonic stem cells).

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download.
• The dataset scope is limited to 88 variants, which may restrict broader statistical analysis.
• Freshness should be verified as the last update date is in the future (2026-04-23).

Provenance

Source

figshare, author Ju Hyeon Shin.

Collection Method

Retrospective collection of patient data with BRCA2 variants evaluated in two SGE studies, reassessed using clinical guidelines.

Time Range

Clinicopathological data collected over 24 years; specific years not stated.

Freshness

Last updated 2026-04-23 22:02:02