10-50991587-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001098512.3(PRKG1):āc.209C>Gā(p.Thr70Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000094 in 1,595,282 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001098512.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151892Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 6AN: 214908Hom.: 0 AF XY: 0.0000343 AC XY: 4AN XY: 116650
GnomAD4 exome AF: 0.00000831 AC: 12AN: 1443280Hom.: 0 Cov.: 34 AF XY: 0.0000140 AC XY: 10AN XY: 716464
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152002Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74324
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Uncertain:1
The c.209C>G (p.T70R) alteration is located in exon 1 (coding exon 1) of the PRKG1 gene. This alteration results from a C to G substitution at nucleotide position 209, causing the threonine (T) at amino acid position 70 to be replaced by an arginine (R). 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