BRCA2 Variant Clinical Interpretation Comparing Two Saturation Genome Editing Studies

A clinical variant interpretation dataset compares functional results from two saturation genome editing studies for the BRCA2 gene. The data includes 88 variants from 526 patients, with results reassessed using ClinGen guidelines and multifactorial likelihood analysis. The dataset was created by Ju Hyeon Shin and last updated in April 2026.

Use Cases

• Reclassifying variants of uncertain significance based on concordant functional evidence mentioned in the description
• Comparing major error rates between different functional assay platforms for BRCA2 variants
• Assessing the clinical utility of saturation genome editing data for variant interpretation
• Identifying potentially hypomorphic variants from discordant functional study results

Strengths

• Includes data from 526 patients, providing a clinical context for the functional results
• Compares two distinct saturation genome editing studies, highlighting 13 discordant variants
• Led to the reclassification of 93.1% (27/29) of variants of uncertain significance
• Uses a 24-year collection of clinicopathological data from a single institution for context

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• Dataset is small (26.4 KB), indicating limited scope

Provenance

Source

figshare, author Ju Hyeon Shin

Collection Method

Retrospective data collection from patients with BRCA2 variants evaluated in two saturation genome editing studies

Time Range

Clinicopathological data collected over 24 years; specific dates not provided

Freshness

Last updated 2026-04-23 22:02:03; freshness should be verified