16-53480-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016310.5(POLR3K):c.107G>C(p.Arg36Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000435 in 1,609,080 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016310.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000415 AC: 1AN: 240718Hom.: 0 AF XY: 0.00000763 AC XY: 1AN XY: 131102
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1456878Hom.: 0 Cov.: 35 AF XY: 0.00000552 AC XY: 4AN XY: 724572
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.107G>C (p.R36P) alteration is located in exon 1 (coding exon 1) of the POLR3K gene. This alteration results from a G to C substitution at nucleotide position 107, causing the arginine (R) at amino acid position 36 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at