Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003376(VEGFA):c.-94C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.682 in 151946 control chromosomes in the gnomAD Genomes database, including 35315 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.682AC: 103572AN: 151946Hom.: 35315Cov.: 33 GnomAD4 exome AF: 0.684AC: 886758AN: 1297288Hom.: 304109 AF XY: 0.684AC XY: 436658AN XY: 638118
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Jun 19, 2021||This variant is associated with the following publications: (PMID: 27648002, 25992764, 23957473, 25328912, 22993299, 15338501, 11978667, 24205329, 23007030, 16142870, 19653005, 23353010, 10930302, 15963467) -|
Microvascular complications of diabetes, susceptibility to, 1
|risk factor, no assertion criteria provided||literature only||OMIM||May 01, 2002||- -|
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