rs370542792
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_001098512.3(PRKG1):c.258G>A(p.Lys86Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000168 in 1,528,328 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001098512.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000891 AC: 135AN: 151444Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000116 AC: 16AN: 137824Hom.: 0 AF XY: 0.0000807 AC XY: 6AN XY: 74388
GnomAD4 exome AF: 0.0000886 AC: 122AN: 1376772Hom.: 0 Cov.: 34 AF XY: 0.0000722 AC XY: 49AN XY: 678560
GnomAD4 genome AF: 0.000891 AC: 135AN: 151556Hom.: 0 Cov.: 32 AF XY: 0.000850 AC XY: 63AN XY: 74088
ClinVar
Submissions by phenotype
PRKG1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at