Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001713(BHMT):c.716G>A(p.Arg239Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.277 in 151846 control chromosomes in the gnomAD Genomes database, including 5975 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.277AC: 42017AN: 151846Hom.: 5975Cov.: 31 GnomAD3 exomes AF: 0.302AC: 75970AN: 251278Hom.: 11846 AF XY: 0.302AC XY: 41045AN XY: 135816 GnomAD4 exome AF: 0.293AC: 427841AN: 1460856Hom.: 63643 AF XY: 0.293AC XY: 212945AN XY: 726532
ClinVarNot reported in
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