Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001318876(POLR1C):c.945+240822A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.756 in 151704 control chromosomes in the gnomAD Genomes database, including 44151 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.756AC: 114652AN: 151704Hom.: 44151Cov.: 32 GnomAD4 exome AF: 0.706AC: 98753AN: 139804Hom.: 35290 AF XY: 0.703AC XY: 48389AN XY: 68808
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Jun 19, 2021||This variant is associated with the following publications: (PMID: 24902660, 23962084, 12067976, 23007030, 11752046, 23404364, 10626738, 21831507) -|
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