10-49843587-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003631.5(PARG):c.2399G>A(p.Arg800His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000142 in 1,550,964 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R800C) has been classified as Uncertain significance.
Frequency
Consequence
NM_003631.5 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: 0.0000329 AC: 5AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000639 AC: 1AN: 156442Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82910
GnomAD4 exome AF: 0.0000122 AC: 17AN: 1398790Hom.: 0 Cov.: 29 AF XY: 0.0000145 AC XY: 10AN XY: 689946
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152174Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2399G>A (p.R800H) alteration is located in exon (coding exon ) of the PARG gene. This alteration results from a G to A substitution at nucleotide position 2399, causing the arginine (R) at amino acid position 800 to be replaced by a histidine (H). 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