Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2_SupportingPM5PP3_Moderate
The NM_000142.5(FGFR3):c.749C>A(p.Pro250Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152186 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P250R) has been classified as Likely pathogenic.
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
GnomAD3 genomes AF: 0.00000657AC: 1AN: 152186Hom.: 0Cov.: 33 GnomAD4 exome AF: 0.00000137AC: 2AN: 1454806Hom.: 0 AF XY: 0.00AC XY: 0AN XY: 722914
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at