ENST00000398461.5:n.3121+379dupG
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BS1BS2
The ENST00000398461.5(MEG3):n.3121+379dupG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0118 in 155,842 control chromosomes in the GnomAD database, including 19 homozygotes. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
ENST00000398461.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0119 AC: 1811AN: 152104Hom.: 19 Cov.: 32
GnomAD4 exome AF: 0.00718 AC: 26AN: 3620Hom.: 0 Cov.: 0 AF XY: 0.00513 AC XY: 10AN XY: 1948
GnomAD4 genome AF: 0.0119 AC: 1808AN: 152222Hom.: 19 Cov.: 32 AF XY: 0.0113 AC XY: 842AN XY: 74434
ClinVar
Submissions by phenotype
MEG3-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at