Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000141.5(FGFR2):c.109+906T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.584 in 151778 control chromosomes in the gnomAD Genomes database, including 26072 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Computational evidence support a benign effect (BayesDel_noAF=-0.49).
Variant 10-121592803-A-G is Benign according to our data. Variant chr10-121592803-A-G is described in ClinVar as [Benign]. Clinvar id is 36931. Status of the report is criteria_provided_single_submitter, 1 stars.
GnomAd highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.67 is higher than 0.05.