ACMG/AMP Variant Classification

Bayesian scoring · Tavtigian 2020 & Richards 2015 · Clinical decision aid only

Session

Date of Analysis

Variant

Gene

Inheritance

HGVS c. (coding)

HGVS p. (protein)

ClinVar Variation ID

Transcript

Variant Type

Sex

Population & Computational Evidence

gnomAD overall AF

gnomAD PopMax AF

SpliceAI Max Δ

REVEL score

AlphaMissense

CADD phred

BayesDel addAF

ClinPred

Gene Constraint

gnomAD missense constraint metrics — applied in integrated assessment for missense variants. Source: gnomAD › Gene page › Constraint tab.

Missense Z-score

O/E missense

O/E upper CI (90%)

Enter Z-score or O/E CI to see constraint tier.

Opens the Report tab — always reflects current state

⚠ This tool is a clinical decision aid. Classifications are based on evidence available at time of analysis and may change as new evidence emerges. Formal variant classification must be performed by a qualified geneticist or genetic counselor following laboratory-specific SOPs.

ACMG/AMP Variant Classification

Session

Variant

Population & Computational Evidence

Gene Constraint

Inheritance / De Novo Status

Disease Prior