NM_001098512.3:c.-474C>T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001098512.3(PRKG1):c.-474C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as 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: 0.898 AC: 124584AN: 138804Hom.: 55999 Cov.: 17
GnomAD4 exome AF: 0.811 AC: 863AN: 1064Hom.: 357 Cov.: 0 AF XY: 0.819 AC XY: 480AN XY: 586
GnomAD4 genome AF: 0.898 AC: 124688AN: 138912Hom.: 56051 Cov.: 17 AF XY: 0.896 AC XY: 59829AN XY: 66756
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