7-550511-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BA1
The NM_001164760.2(PRKAR1B):c.1065C>T(p.Phe355Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0103 in 1,603,114 control chromosomes in the GnomAD database, including 827 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
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0166 AC: 2530AN: 152118Hom.: 93 Cov.: 33
GnomAD3 exomes AF: 0.0194 AC: 4412AN: 227768Hom.: 256 AF XY: 0.0186 AC XY: 2295AN XY: 123608
GnomAD4 exome AF: 0.00958 AC: 13898AN: 1450876Hom.: 735 Cov.: 31 AF XY: 0.00982 AC XY: 7079AN XY: 720660
GnomAD4 genome AF: 0.0167 AC: 2535AN: 152238Hom.: 92 Cov.: 33 AF XY: 0.0176 AC XY: 1307AN XY: 74438
ClinVar
Submissions by phenotype
not specified Benign:2
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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