Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_005957(MTHFR):c.*4644_*4645insA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -10 ACMG points.
GnomAD3 genomes AF: 0.984AC: 147309AN: 149702Hom.: 72488Cov.: 0
Submissions by phenotype
Neural tube defects, folate-sensitive
|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