chr21-38814372-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005239.6(ETS2):c.284G>A(p.Arg95Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00014 in 1,613,992 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R95W) has been classified as Uncertain significance.
Frequency
Consequence
NM_005239.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ETS2 | NM_005239.6 | c.284G>A | p.Arg95Gln | missense_variant | 4/10 | ENST00000360938.8 | |
ETS2 | NM_001256295.2 | c.704G>A | p.Arg235Gln | missense_variant | 5/11 | ||
ETS2 | XM_005260935.2 | c.284G>A | p.Arg95Gln | missense_variant | 4/10 | ||
ETS2 | XM_017028290.2 | c.284G>A | p.Arg95Gln | missense_variant | 4/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ETS2 | ENST00000360938.8 | c.284G>A | p.Arg95Gln | missense_variant | 4/10 | 1 | NM_005239.6 | P1 | |
ETS2-AS1 | ENST00000663561.1 | n.535-947C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000115 AC: 29AN: 251338Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135856
GnomAD4 exome AF: 0.000144 AC: 210AN: 1461792Hom.: 0 Cov.: 31 AF XY: 0.000143 AC XY: 104AN XY: 727182
GnomAD4 genome AF: 0.000105 AC: 16AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2021 | The c.284G>A (p.R95Q) alteration is located in exon 4 (coding exon 3) of the ETS2 gene. This alteration results from a G to A substitution at nucleotide position 284, causing the arginine (R) at amino acid position 95 to be replaced by a glutamine (Q). 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