rs4343
Variant summary
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.Thr776Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.502 in 1,608,750 control chromosomes in the GnomAD database, including 207,727 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000789.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACE | ENST00000290866.10 | c.2328G>A | p.Thr776Thr | synonymous_variant | Exon 16 of 25 | 1 | NM_000789.4 | ENSP00000290866.4 | ||
ENSG00000264813 | ENST00000577647.2 | n.606G>A | non_coding_transcript_exon_variant | Exon 5 of 31 | 2 | ENSP00000464149.1 |
Frequencies
GnomAD3 genomes AF: 0.562 AC: 83465AN: 148590Hom.: 24775 Cov.: 27
GnomAD3 exomes AF: 0.533 AC: 134087AN: 251352Hom.: 37221 AF XY: 0.526 AC XY: 71419AN XY: 135848
GnomAD4 exome AF: 0.496 AC: 723840AN: 1460046Hom.: 182884 Cov.: 51 AF XY: 0.496 AC XY: 360156AN XY: 726438
GnomAD4 genome AF: 0.562 AC: 83595AN: 148704Hom.: 24843 Cov.: 27 AF XY: 0.560 AC XY: 40536AN XY: 72338
ClinVar
Submissions by phenotype
not provided Benign:3
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Renal tubular dysgenesis Benign:2
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. -
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not specified Benign:1
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Myocardial infarction, susceptibility to Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at