BRCAIndica

BRCAIndica provides ACMG/AMP classified variants in BRCA1 and BRCA2 genes to enable uniform genomic interpretation of genetic tests with a specific focus on variants reported in the Indian population.

Key Features:

• Variant Collection: The resource encompasses over 10,000 unique variants collected and harmonized from population-scale datasets, literature survey, and other variant datasets.
• ACMG/AMP Classification: Variants are classified according to the ACMG/AMP joint guidelines for systematic and uniform interpretation of pathogenicity.
• Population Focus: The resource specifically focuses on variants reported in the Indian population.
• Variant Breakdown: The collection includes 2,261 Pathogenic and 43 Likely Pathogenic variants in BRCA1, and 2,694 Pathogenic and 20 Likely Pathogenic variants in BRCA2.

Scientific Applications:

• Clinical Variant Interpretation: The resource aids uniform clinical interpretation of genetic tests for BRCA1 and BRCA2 variants.
• Genetic Testing Support: BRCAIndica supports researchers and clinicians with ACMG/AMP annotated BRCA variants for population-scale analysis.

Methodology:

Variants were collected and harmonized from across several resources including population-scale datasets, literature survey and other variant datasets, then classified according to the ACMG/AMP guidelines.