Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_005957(MTHFR):c.*4074_*4077del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Likely benign (★).
Verdict is Benign. Variant got -10 ACMG points.
GnomAD3 genomes AF: 0.542AC: 76895AN: 141988Hom.: 21344Cov.: 0 GnomAD4 exome AF: 0.250AC: 1AN: 4Hom.: 0AC XY: 0AN XY: 0
Submissions by phenotype
Neural tube defects, folate-sensitive
|Likely benign, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jun 14, 2016||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at