chr10-50991034-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001098512.3(PRKG1):c.-345A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0159 in 226,654 control chromosomes in the GnomAD database, including 54 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001098512.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0183 AC: 2747AN: 150396Hom.: 39 Cov.: 28
GnomAD4 exome AF: 0.0110 AC: 839AN: 76142Hom.: 14 Cov.: 0 AF XY: 0.0127 AC XY: 513AN XY: 40530
GnomAD4 genome AF: 0.0184 AC: 2764AN: 150512Hom.: 40 Cov.: 28 AF XY: 0.0179 AC XY: 1317AN XY: 73532
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at