22-29287109-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_005243.4(EWSR1):āc.768A>Gā(p.Gln256Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000418 in 1,614,096 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 (no stars).
Frequency
Consequence
NM_005243.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152188Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000840 AC: 211AN: 251294Hom.: 0 AF XY: 0.000825 AC XY: 112AN XY: 135824
GnomAD4 exome AF: 0.000423 AC: 618AN: 1461790Hom.: 6 Cov.: 33 AF XY: 0.000426 AC XY: 310AN XY: 727196
GnomAD4 genome AF: 0.000368 AC: 56AN: 152306Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74468
ClinVar
Submissions by phenotype
EWSR1-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