chr10-51153260-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_006258.4(PRKG1):c.408G>A(p.Pro136Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0199 in 1,612,374 control chromosomes in the GnomAD database, including 434 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006258.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0173 AC: 2630AN: 151926Hom.: 41 Cov.: 31
GnomAD3 exomes AF: 0.0172 AC: 4315AN: 250736Hom.: 59 AF XY: 0.0174 AC XY: 2365AN XY: 135536
GnomAD4 exome AF: 0.0202 AC: 29480AN: 1460330Hom.: 394 Cov.: 30 AF XY: 0.0202 AC XY: 14643AN XY: 726482
GnomAD4 genome AF: 0.0173 AC: 2627AN: 152044Hom.: 40 Cov.: 31 AF XY: 0.0176 AC XY: 1305AN XY: 74332
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Familial thoracic aortic aneurysm and aortic dissection Benign:2
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This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Aortic aneurysm, familial thoracic 8 Benign:2
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at