Our verdict is Benign. Variant got -8 ACMG points: 1P and 9B. PP5BP4BA1
The NM_001142616.3(EHBP1):c.1185+30064G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.133 in 151994 control chromosomes in the gnomAD Genomes database, including 1697 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Verdict is Benign. Variant got -8 ACMG points.
GnomAD3 genomes AF: 0.133AC: 20219AN: 151994Hom.: 1697Cov.: 31
Submissions by phenotype
Prostate cancer, hereditary, 12
|Pathogenic, no assertion criteria provided||literature only||OMIM||Mar 01, 2008||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at