Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_005957(MTHFR):c.*372A>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.632 in 151972 control chromosomes in the gnomAD Genomes database, including 31075 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: 0.632AC: 96038AN: 151972Hom.: 31075Cov.: 33 GnomAD4 exome AF: 0.674AC: 254913AN: 378264Hom.: 87058 AF XY: 0.670AC XY: 130689AN XY: 195180
Submissions by phenotype
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 04, 2022||- -|
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