Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_000789.4(ACE):c.2328G>A(p.Thr776=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.562 in 148590 control chromosomes in the gnomAD Genomes database, including 24775 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Verdict is Benign. Variant got -21 ACMG points.
GnomAD3 genomes AF: 0.562AC: 83465AN: 148590Hom.: 24775Cov.: 27 GnomAD3 exomes AF: 0.533AC: 134087AN: 251352Hom.: 37221 AF XY: 0.526AC XY: 71419AN XY: 135848 GnomAD4 exome AF: 0.496AC: 723840AN: 1460046Hom.: 182884 AF XY: 0.496AC XY: 360156AN XY: 726438
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Nov 10, 2018||- -|
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 01, 2022||- -|
|Benign, criteria provided, single submitter||clinical testing||Genome-Nilou Lab||Jul 14, 2021||- -|
|Benign, criteria provided, single submitter||clinical testing||Illumina Laboratory Services, Illumina||Jan 13, 2018||This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -|
|Benign, criteria provided, single submitter||clinical testing||PreventionGenetics, PreventionGenetics||-||- -|
Myocardial infarction, susceptibility to
|Benign, no assertion criteria provided||reference population||iDNA Genomics||Oct 11, 2021||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at