Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003376(VEGFA):c.*237C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.129 in 151728 control chromosomes in the gnomAD Genomes database, including 1462 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as other (no stars).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.129AC: 19602AN: 151728Hom.: 1462Cov.: 31 GnomAD4 exome AF: 0.146AC: 80486AN: 550102Hom.: 6449 AF XY: 0.143AC XY: 41724AN XY: 292778
Submissions by phenotype
|other, no assertion criteria provided||research||Department of Surgery, Campus Charité Mitte Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin||Dec 10, 2022||No association with disease-free or overall survival after resection of intrahepatic Cholangiocarcinoma No association with disease-free or overall survival|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at