Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001367943(TCF7L2):c.450+29705T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.333 in 151992 control chromosomes in the gnomAD Genomes database, including 9107 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: 0.333AC: 50674AN: 151992Hom.: 9107Cov.: 32
ClinVarNot reported in
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