Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2_SupportingPP2BP4_Moderate
The NM_000064.4(C3):c.304C>T(p.Arg102Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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. R102G) has been classified as Benign.
Verdict is Uncertain_significance.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 6.84e-7AC: 1AN: 1461888Hom.: 0 AF XY: 0.00000138AC XY: 1AN XY: 727246
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at