Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_194255.4(SLC19A1):c.80A>C(p.His27Pro) 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. 13/20 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. H27R) has been classified as Likely benign.
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD3 exomes AF: 0.00000437AC: 1AN: 228958Hom.: 0 AF XY: 0.00000803AC XY: 1AN XY: 124500 GnomAD4 exome AF: 6.90e-7AC: 1AN: 1448858Hom.: 0 AF XY: 0.00000139AC XY: 1AN XY: 719954
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at