Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_004994.3(MMP9):c.836A>C(p.Gln279Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q279R) has been classified as Benign.
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 31
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at