10-49861643-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_003631.5(PARG):c.2150G>A(p.Arg717Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 9/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003631.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 7AN: 151588Hom.: 0 Cov.: 25 FAILED QC
GnomAD3 exomes AF: 0.0000286 AC: 3AN: 105050Hom.: 0 AF XY: 0.0000179 AC XY: 1AN XY: 55912
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000834 AC: 115AN: 1378588Hom.: 0 Cov.: 22 AF XY: 0.0000742 AC XY: 51AN XY: 687062
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000462 AC: 7AN: 151588Hom.: 0 Cov.: 25 AF XY: 0.0000270 AC XY: 2AN XY: 73976
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2150G>A (p.R717Q) alteration is located in exon 12 (coding exon 12) of the PARG gene. This alteration results from a G to A substitution at nucleotide position 2150, causing the arginine (R) at amino acid position 717 to be replaced by a glutamine (Q). 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