Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_013402.7(FADS1):c.1248+52A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.288 in 151986 control chromosomes in the gnomAD Genomes database, including 8125 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.288AC: 43701AN: 151986Hom.: 8125Cov.: 32 GnomAD4 exome AF: 0.338AC: 446677AN: 1320148Hom.: 82457 AF XY: 0.332AC XY: 220249AN XY: 664042
ClinVarNot reported in
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