Unlike single-nucleotide variants (SNVs), a multi-nucleotide variant (MNV) represents a single event involving multiple consecutive bases. In Emedgene, small variants are recognized as those comprising an MNV if they are located within a 2-nucleotide distance.
Limitations
Currently, Emedgene does not fully support MNV functionality. The following features are restricted:
Export to Curate: Blocked because Curate does not support MNVs.
AI Shortlist: MNVs are not included in the AI shortlist.
ACMG Classification: Disabled for MNVs.
From v100.39.0 onward:
Emedgene recognizes MNV as a distinct variant type and supports ingestion from VCF, annotation, and filtering.
Each MNV is represented and annotated as:
An MNV itself (eg, AG>TC)
Individual SNVs derived from the MNV (eg, A>T and G>C), for compatibility with existing tools and workflows
Both the MNV and its underlying SNVs display the "Suspected MNP" badge in the Clinical significance tab.
Up to v38.0:
During data processing, MNVs are split into consecutive SNVs. The resulting SNVs are annotated with INFO and FORMAT fields that mirror the original record.
