Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_005957(MTHFR):c.*4070_*4077del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Benign. Variant got -8 ACMG points.
GnomAD3 genomes AF: 0.0749AC: 10649AN: 142188Hom.: 419Cov.: 0 GnomAD4 exome AF: 0.500AC: 2AN: 4Hom.: 1AC XY: 0AN XY: 0
Submissions by phenotype
Neural tube defects, folate-sensitive
|Uncertain significance, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jun 14, 2016||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at