7-550592-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_001164760.2(PRKAR1B):āc.984A>Gā(p.Ala328Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0113 in 1,579,800 control chromosomes in the GnomAD database, including 885 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001164760.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0221 AC: 3358AN: 151804Hom.: 125 Cov.: 32
GnomAD3 exomes AF: 0.0214 AC: 4460AN: 208320Hom.: 251 AF XY: 0.0201 AC XY: 2290AN XY: 114066
GnomAD4 exome AF: 0.0101 AC: 14436AN: 1427878Hom.: 761 Cov.: 32 AF XY: 0.0102 AC XY: 7258AN XY: 708444
GnomAD4 genome AF: 0.0222 AC: 3368AN: 151922Hom.: 124 Cov.: 32 AF XY: 0.0230 AC XY: 1712AN XY: 74280
ClinVar
Submissions by phenotype
not specified Benign:2
- -
- -
PRKAR1B-related disorder Benign:1
This variant is classified as 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