12-15623161-C-T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_004447.6(EPS8):c.2352G>A(p.Leu784=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0487 in 1,604,462 control chromosomes in the GnomAD database, including 10,231 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. L784L) has been classified as Likely benign.
Frequency
Consequence
NM_004447.6 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EPS8 | NM_004447.6 | c.2352G>A | p.Leu784= | synonymous_variant | 20/21 | ENST00000281172.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EPS8 | ENST00000281172.10 | c.2352G>A | p.Leu784= | synonymous_variant | 20/21 | 1 | NM_004447.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.154 AC: 23361AN: 151970Hom.: 5072 Cov.: 32
GnomAD3 exomes AF: 0.0578 AC: 13963AN: 241568Hom.: 2125 AF XY: 0.0493 AC XY: 6430AN XY: 130322
GnomAD4 exome AF: 0.0376 AC: 54669AN: 1452376Hom.: 5150 Cov.: 31 AF XY: 0.0360 AC XY: 26017AN XY: 722048
GnomAD4 genome ? AF: 0.154 AC: 23404AN: 152086Hom.: 5081 Cov.: 32 AF XY: 0.148 AC XY: 11020AN XY: 74342
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Aug 23, 2017 | p.Leu784Leu in exon 20 of EPS8: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 48.80% (5077/10404) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs1126786). - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 09, 2017 | 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. - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | May 24, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at