Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_012099(POLR1G):c.1510C>A(p.Gln504Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.272 in 151910 control chromosomes in the gnomAD Genomes database, including 5750 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -20 ACMG points.
GnomAD3 genomes AF: 0.272AC: 41313AN: 151910Hom.: 5750Cov.: 31 GnomAD3 exomes AF: 0.289AC: 67411AN: 233160Hom.: 9838 AF XY: 0.284AC XY: 36050AN XY: 127022 GnomAD4 exome AF: 0.256AC: 371853AN: 1453768Hom.: 48450 AF XY: 0.256AC XY: 184992AN XY: 722782
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Nov 11, 2018||This variant is associated with the following publications: (PMID: 10952103, 18635523, 23203453) -|
|Benign, criteria provided, single submitter||clinical testing||Invitae||Oct 22, 2022||- -|
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