Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS1_Supporting
The NM_005957(MTHFR):c.*174del variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00114 in 152222 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomes AF: 0.00114AC: 174AN: 152222Hom.: 0Cov.: 33 GnomAD4 exome AF: 0.00186AC: 2385AN: 1279974Hom.: 5 AF XY: 0.00181AC XY: 1130AN XY: 623090
Submissions by phenotype
Neural tube defects, folate-sensitive
|Uncertain significance, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jun 14, 2016||- -|
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