rs202017913
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001098512.3(PRKG1):c.39G>A(p.Met13Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000896 in 1,572,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001098512.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000592 AC: 90AN: 152118Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000818 AC: 153AN: 187022Hom.: 0 AF XY: 0.000855 AC XY: 86AN XY: 100592
GnomAD4 exome AF: 0.000929 AC: 1319AN: 1420260Hom.: 0 Cov.: 34 AF XY: 0.000932 AC XY: 655AN XY: 703068
GnomAD4 genome AF: 0.000591 AC: 90AN: 152232Hom.: 0 Cov.: 31 AF XY: 0.000605 AC XY: 45AN XY: 74438
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:2
This alteration is classified as likely 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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PRKG1-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). -
Aortic aneurysm, familial thoracic 8 Benign:1
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not provided Benign:1
PRKG1: BP4, BS1 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at