Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2_SupportingPM4
The NM_004827.3(ABCG2):c.421C>T(p.Gln141Ter) variant causes a stop gained 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 pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Verdict is Uncertain_significance. Variant got 3 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.