Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_005957(MTHFR):c.*7G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000723 in 152130 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Likely_benign. Variant got -4 ACMG points.
GnomAD3 genomes AF: 0.0000723AC: 11AN: 152130Hom.: 0Cov.: 33 GnomAD3 exomes AF: 0.000159AC: 40AN: 250858Hom.: 1 AF XY: 0.000229AC XY: 31AN XY: 135602 GnomAD4 exome AF: 0.0000842AC: 123AN: 1461560Hom.: 3 AF XY: 0.000116AC XY: 84AN XY: 727050
Submissions by phenotype
|Uncertain significance, criteria provided, single submitter||clinical testing||Eurofins Ntd Llc (ga)||Jul 29, 2014||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at