Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_001382817(AGT):c.803C>T(p.Ala268Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 14/20 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A268D) has been classified as Uncertain significance.
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD3 exomes AF: 0.00000796AC: 2AN: 251382Hom.: 0 AF XY: 0.0000147AC XY: 2AN XY: 135880 GnomAD4 exome AF: 0.00000684AC: 10AN: 1461848Hom.: 0 AF XY: 0.00000963AC XY: 7AN XY: 727236
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at