rs9965714
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_020964.3(EPG5):c.3436T>C(p.Leu1146Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00064 in 1,614,118 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020964.3 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: 0.00347 AC: 528AN: 152202Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00100 AC: 250AN: 249476Hom.: 1 AF XY: 0.000739 AC XY: 100AN XY: 135344
GnomAD4 exome AF: 0.000346 AC: 506AN: 1461798Hom.: 3 Cov.: 31 AF XY: 0.000314 AC XY: 228AN XY: 727220
GnomAD4 genome AF: 0.00346 AC: 527AN: 152320Hom.: 3 Cov.: 32 AF XY: 0.00324 AC XY: 241AN XY: 74480
ClinVar
Submissions by phenotype
EPG5-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Vici syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at