22-29278047-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_005243.4(EWSR1):c.244G>A(p.Ala82Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000806 in 1,613,762 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005243.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152178Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000400 AC: 10AN: 250164Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135170
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461466Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727040
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152296Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.262G>A (p.A88T) alteration is located in exon 6 (coding exon 6) of the EWSR1 gene. This alteration results from a G to A substitution at nucleotide position 262, causing the alanine (A) at amino acid position 88 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at