7-550578-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_001164760.2(PRKAR1B):c.998G>A(p.Arg333Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000249 in 1,591,226 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001164760.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000302 AC: 67AN: 221534Hom.: 0 AF XY: 0.000321 AC XY: 39AN XY: 121504
GnomAD4 exome AF: 0.000252 AC: 362AN: 1438956Hom.: 2 Cov.: 32 AF XY: 0.000271 AC XY: 194AN XY: 714746
GnomAD4 genome AF: 0.000230 AC: 35AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74442
ClinVar
Submissions by phenotype
PRKAR1B-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