chr9-69013596-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_002732.4(PRKACG):c.497G>A(p.Arg166His) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,612,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002732.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151996Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000807 AC: 2AN: 247824Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134074
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460832Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726682
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151996Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74236
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.497G>A (p.R166H) alteration is located in exon 1 (coding exon 1) of the PRKACG gene. This alteration results from a G to A substitution at nucleotide position 497, causing the arginine (R) at amino acid position 166 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