NGSDiag V1 — 2018
The most widely used version in France. French
adaptation of ACMG/AMP 2015 recommendations (Richards et al.)
by the NGS-Diag network. Fixed criteria.
National reference
NGSDiag V2 — 2021
The latest version of ACMG recommendations adapted by
NGS-Diag. Introduces weight modulation of criteria.
Removes PP5/BP6.
Latest ACMG version
ABC System — ESHG Recommendation (Houge et al.
2021)New bidimensional approach proposed by ESHG and
published in EJHG. Separates functional evaluation
(Grade A, 0–5) from clinical evaluation (Grade B,
0–5) to produce a class A to F. Alternative to ACMG criteria.
Alternative approach
ACMG/AMP Richards et al. 2015, adapted NGSDiag 2018
OMIM (Online Mendelian Inheritance in Man) is
a reference database cataloguing human genes and genetic
diseases. Each entry describes gene-phenotype relationships
and inheritance modes.
Variant Details:
Variant notation:
Genomic position:corresponds to the nucleotide number and its change
E.g., chr11:47352739C>T is nucleotide #47352739 of
chromosome 11 changed from C to T
cDNA:Position of the nucleotide in the coding portion of the
gene, excluding intronic nucleotides
E.g., c.1504C>T is the 1504th coding nucleotide of
the gene's exons
Protein:Prediction of amino acid change
E.g., p.(Arg502Ter) is an Arginine at position 502
changed to a STOP codon
Second Variant (Compound Heterozygous)
No second variant for this case
Compound heterozygous:
A compound heterozygous individual carries two different
variants in the same gene, one on each allele (inherited from
each parent). This is particularly important for autosomal
recessive diseases where both alleles must be altered for the
disease to manifest.
Prediction Scores
Frequency and Databases
Classification by criteria• Select criteria
↑
Classification NGSDiag V1 — ACMG 2015 Criteria
Automatic Classification
Selected criteria:No criteria
Insufficient criteria
⚠️
Incompatible criteria detected
Do you report this variant to the patient?
🔴 Pathogenic Criteria
🟢 Benign Criteria
🔬 Étape A — Grade Fonctionnel
🏥 Étape B — Grade Clinique
Matrix A × B → Resulting Class
0/FInsuff. data / Discordant geneEVariant of interestDPathogenic candidateC–APathogenic