8-144080552-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019037.3(EXOSC4):c.689G>T(p.Arg230Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,162 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_019037.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EXOSC4 | NM_019037.3 | c.689G>T | p.Arg230Leu | missense_variant | Exon 3 of 3 | ENST00000316052.6 | NP_061910.1 | |
EXOSC4 | XM_011517134.4 | c.395G>T | p.Arg132Leu | missense_variant | Exon 3 of 3 | XP_011515436.1 | ||
LOC124902038 | XR_007061141.1 | n.1277C>A | non_coding_transcript_exon_variant | Exon 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EXOSC4 | ENST00000316052.6 | c.689G>T | p.Arg230Leu | missense_variant | Exon 3 of 3 | 1 | NM_019037.3 | ENSP00000315476.4 | ||
ENSG00000290230 | ENST00000703646.1 | n.689G>T | non_coding_transcript_exon_variant | Exon 3 of 8 | ENSP00000515414.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1448458Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 721040
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at