16-70251284-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_058219.3(EXOSC6):c.617G>A(p.Arg206His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000377 in 1,432,174 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. R206S) has been classified as Uncertain significance.
Frequency
Consequence
NM_058219.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EXOSC6 | NM_058219.3 | c.617G>A | p.Arg206His | missense_variant | 1/1 | ENST00000435634.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EXOSC6 | ENST00000435634.3 | c.617G>A | p.Arg206His | missense_variant | 1/1 | NM_058219.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000178 AC: 27AN: 151938Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000412 AC: 2AN: 48520Hom.: 0 AF XY: 0.0000357 AC XY: 1AN XY: 28032
GnomAD4 exome AF: 0.0000211 AC: 27AN: 1280236Hom.: 0 Cov.: 29 AF XY: 0.0000191 AC XY: 12AN XY: 627238
GnomAD4 genome AF: 0.000178 AC: 27AN: 151938Hom.: 0 Cov.: 33 AF XY: 0.000135 AC XY: 10AN XY: 74208
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at