11-124542779-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001005195.1(OR8B12):c.876G>T(p.Arg292Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,609,386 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005195.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR8B12 | NM_001005195.1 | c.876G>T | p.Arg292Ser | missense_variant | Exon 1 of 1 | ENST00000306842.3 | NP_001005195.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152086Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000324 AC: 8AN: 246676Hom.: 0 AF XY: 0.0000451 AC XY: 6AN XY: 133054
GnomAD4 exome AF: 0.0000281 AC: 41AN: 1457300Hom.: 0 Cov.: 32 AF XY: 0.0000290 AC XY: 21AN XY: 724394
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152086Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.876G>T (p.R292S) alteration is located in exon 1 (coding exon 1) of the OR8B12 gene. This alteration results from a G to T substitution at nucleotide position 876, causing the arginine (R) at amino acid position 292 to be replaced by a serine (S). 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