Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017774(CDKAL1):c.371+30101A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.371 in 151902 control chromosomes in the gnomAD Genomes database, including 11781 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.371AC: 56381AN: 151902Hom.: 11781Cov.: 32
Submissions by phenotype
Type 2 diabetes mellitus
|Uncertain significance, no assertion criteria provided||literature only||OMIM||Sep 01, 2014||- -|
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