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Germline criteria
Each code shown with its ACMG base definition (Richards et al. 2015, PMID: 25741868).
- 1 Very Strong (PVS1) AND
- ≥1 Strong (PS1–4) OR
- ≥2 Moderate (PM1–6) OR
- 1 Moderate + 1 Supporting OR
- ≥2 Supporting
- ≥2 Strong (PS1–4) OR
- 1 Strong AND
- ≥3 Moderate OR
- 2 Moderate + ≥2 Supporting OR
- 1 Moderate + ≥4 Supporting
- 1 Very Strong + 1 Moderate OR
- 1 Strong + 1–2 Moderate OR
- 1 Strong + ≥2 Supporting OR
- ≥3 Moderate OR
- 2 Moderate + ≥2 Supporting OR
- 1 Moderate + ≥4 Supporting
- 1 Standalone (BA1) OR
- ≥2 Strong (BS1–4)
- 1 Strong + 1 Supporting OR
- ≥2 Supporting (BP1–7)
VUS: criteria unmet, or pathogenic/benign evidence conflicts.
Somatic / Mosaic criteria
Each code shown with its ACMG base definition and the Brain VCEP modification (Leon-Quintero et al. 2025, doi:10.1111/cge.14636).
| Points | Classification |
|---|---|
| ≥10 | Pathogenic |
| 6 to 9 | Likely Pathogenic |
| 0 to 5 | VUS |
| −1 to −6 | Likely Benign |
| ≤−7 | Benign |
Point values: Very Strong = 8, Strong = 4, Moderate = 2, Supporting = 1 (and their fractional _M/_P equivalents).
Variant Description Template
Starter structure for the report Interpretation field: c. and 3-letter p. nomenclature, one sentence per applied ACMG criterion, final classification statement.
In-text only, alphabetical by first author: "LastName F et al., PMID: 25741868; LastName S et al., PMID: 29353266". No separate references section.