Click any variant in the variant browser to open the variant detail panel on the right side of the screen. This panel provides seven tabs of in-depth information for thorough variant analysis.
Assessment tab
The Assessment tab displays computational pathogenicity predictions:
Pathogenicity predictor
A summary section shows the overall classification (e.g., “Benign” or “Pathogenic”) with a visual indicator on the benign-to-pathogenic spectrum.
In silico predictions
| Predictor | What it measures |
|---|
| SIFT | Whether an amino acid substitution affects protein function. Scores range from 0 (damaging) to 1 (tolerated). |
| PolyPhen-2 | Probability that a missense mutation is damaging. Scores range from 0 (benign) to 1 (probably damaging). |
| AlphaMissense | Deep learning-based pathogenicity prediction. Classifies variants as Likely Benign, Ambiguous, or Likely Pathogenic. |
Additional scores
- CADD (Combined Annotation Dependent Depletion) — Integrative score ranking variant deleteriousness
- Other computational evidence as available for the variant
Details tab
The Details tab provides comprehensive variant information:
Genomic location
- Chromosome, position, reference allele, and alternate allele
- Cytoband location
HGVS nomenclature
- HGVSc — Coding DNA notation (e.g., “NM_000492.4:c.1521_1523delCTT”)
- HGVSp — Protein notation (e.g., “NP_000483.3:p.Phe508del”)
Population frequency
Allele frequency data from gnomAD and other population databases, broken down by population group.
Conservation
Cross-species conservation scores indicating evolutionary constraint on the variant position.
Research tab
The Research tab aggregates evidence from multiple sources:
ClinVar
Clinical significance interpretations submitted to ClinVar, including review status and assertion criteria.
PubMed
Links to relevant published literature. Click to search PubMed for papers referencing this variant or gene.
Gene function, associated diseases, and pathway information from gene databases.
Phen2Gene
Phenotype-to-gene ranking data showing how strongly this gene associates with the case’s phenotypes.
ACMG tab
The ACMG tab displays the variant’s ACMG/AMP classification criteria. For full details, see the dedicated ACMG classification guide.
Key features:
- Classification badge — Current ACMG classification (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign)
- Active criteria — ACMG criteria that apply to this variant (e.g., BA1, BS1, BP7) with evidence summaries
- Computational evidence summary — Aggregated computational prediction results
- AI Enhance button — Trigger AI-powered evidence review
- Reclassify button — Manually reclassify the variant
gnomAD tab
The gnomAD tab embeds the gnomAD browser directly within the variant detail panel. View population frequency data across global populations without leaving Purna.
The embedded browser shows:
- Allele count, allele number, and allele frequency
- Population-specific frequencies
- Variant quality metrics
AI Analysis tab
The AI Analysis tab provides AI-powered variant interpretation. Click Generate Analysis to have Purna analyze the variant using all available evidence — ClinVar data, population frequencies, in silico predictions, and published literature.
The generated analysis includes:
- Summary of clinical significance
- Evidence evaluation
- Interpretation in the context of the patient’s phenotype
- Recommendations for further investigation
Notes tab
The Notes tab lets you add collaborative notes to a variant. Notes are useful for documenting clinical reasoning, flagging variants for review, or communicating with team members.
- Click Add Note to create a new note
- Set note visibility (private or shared with team)
- Edit or delete existing notes
- View edit history
Use the Notes tab to document your clinical reasoning for each variant. This creates an audit trail that supports reproducible variant interpretation and team collaboration.
