Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PM2_SupportingBP4
The NM_001270508(TNFAIP3):c.380T>C(p.Phe127Ser) 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. 12/20 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. F127C) has been classified as Likely benign.
Verdict is Uncertain_significance.
GnomAD3 genomesCov.: 32 GnomAD3 exomes AF: 0.00000398AC: 1AN: 251476Hom.: 0 AF XY: 0.00AC XY: 0AN XY: 135916 GnomAD4 exome AF: 6.84e-7AC: 1AN: 1461892Hom.: 0 AF XY: 0.00AC XY: 0AN XY: 727246
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at