10-49861626-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003631.5(PARG):c.2167G>A(p.Glu723Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000178 in 1,574,780 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151884Hom.: 0 Cov.: 24
GnomAD3 exomes AF: 0.0000326 AC: 4AN: 122612Hom.: 0 AF XY: 0.0000306 AC XY: 2AN XY: 65258
GnomAD4 exome AF: 0.0000190 AC: 27AN: 1422778Hom.: 0 Cov.: 25 AF XY: 0.0000198 AC XY: 14AN XY: 707692
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152002Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2167G>A (p.E723K) 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 2167, causing the glutamic acid (E) at amino acid position 723 to be replaced by a lysine (K). 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