7-551426-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_001164760.2(PRKAR1B):c.936C>T(p.Tyr312Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000814 in 1,560,538 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 -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00366 AC: 556AN: 152076Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.000975 AC: 164AN: 168218Hom.: 1 AF XY: 0.000747 AC XY: 67AN XY: 89684
GnomAD4 exome AF: 0.000503 AC: 709AN: 1408344Hom.: 2 Cov.: 31 AF XY: 0.000457 AC XY: 318AN XY: 695486
GnomAD4 genome AF: 0.00369 AC: 562AN: 152194Hom.: 4 Cov.: 33 AF XY: 0.00370 AC XY: 275AN XY: 74412
ClinVar
Submissions by phenotype
not provided Benign:1
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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