chr8-106692777-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001198533.2(OXR1):c.575G>A(p.Gly192Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,595,266 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001198533.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OXR1 | NM_001198533.2 | c.575G>A | p.Gly192Asp | missense_variant | 7/17 | ENST00000517566.7 | NP_001185462.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OXR1 | ENST00000517566.7 | c.575G>A | p.Gly192Asp | missense_variant | 7/17 | 1 | NM_001198533.2 | ENSP00000429205 | P3 |
Frequencies
GnomAD3 genomes AF: 0.0000266 AC: 4AN: 150486Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000324 AC: 8AN: 247150Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133800
GnomAD4 exome AF: 0.00000831 AC: 12AN: 1444708Hom.: 0 Cov.: 28 AF XY: 0.00000834 AC XY: 6AN XY: 719308
GnomAD4 genome AF: 0.0000266 AC: 4AN: 150558Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73364
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 10, 2022 | The c.578G>A (p.G193D) alteration is located in exon 6 (coding exon 6) of the OXR1 gene. This alteration results from a G to A substitution at nucleotide position 578, causing the glycine (G) at amino acid position 193 to be replaced by an aspartic acid (D). 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