Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PM2_SupportingBP4_ModerateBP6_ModerateBP7
The NM_005957(MTHFR):c.1970G>A(p.Ter657=) variant causes a stop retained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Verdict is Likely_benign. Variant got -4 ACMG points.
GnomAD3 genomesCov.: 33
Submissions by phenotype
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
|Likely benign, criteria provided, single submitter||clinical testing||Invitae||Aug 28, 2021||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.