Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PVS1_ModeratePM2_SupportingPP3_Strong
The NM_000110.4(DPYD):c.1905+1G>T variant causes a splice donor change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. 2/2 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 6.84e-7AC: 1AN: 1461520Hom.: 0 AF XY: 0.00000138AC XY: 1AN XY: 727054
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.