10-52251573-T-C
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_006258.4(PRKG1):āc.1080T>Cā(p.Tyr360Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000914 in 1,613,344 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
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: 0.00481 AC: 732AN: 152160Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00142 AC: 357AN: 250814Hom.: 1 AF XY: 0.00105 AC XY: 142AN XY: 135558
GnomAD4 exome AF: 0.000508 AC: 742AN: 1461066Hom.: 4 Cov.: 30 AF XY: 0.000435 AC XY: 316AN XY: 726838
GnomAD4 genome AF: 0.00481 AC: 733AN: 152278Hom.: 6 Cov.: 32 AF XY: 0.00458 AC XY: 341AN XY: 74458
ClinVar
Submissions by phenotype
Aortic aneurysm, familial thoracic 8 Benign:3
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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
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. -
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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