7-550568-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_001164760.2(PRKAR1B):c.1008G>A(p.Ala336Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00142 in 1,593,558 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001164760.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00142 AC: 216AN: 152050Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00158 AC: 353AN: 223822Hom.: 0 AF XY: 0.00152 AC XY: 187AN XY: 122938
GnomAD4 exome AF: 0.00141 AC: 2039AN: 1441390Hom.: 4 Cov.: 32 AF XY: 0.00136 AC XY: 975AN XY: 716018
GnomAD4 genome AF: 0.00142 AC: 216AN: 152168Hom.: 2 Cov.: 32 AF XY: 0.00184 AC XY: 137AN XY: 74398
ClinVar
Submissions by phenotype
not provided Benign:1
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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