11-124030005-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001004464.2(OR10G8):c.383C>G(p.Pro128Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000125 in 1,614,036 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P128L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001004464.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR10G8 | NM_001004464.2 | c.383C>G | p.Pro128Arg | missense_variant | Exon 2 of 2 | ENST00000641224.2 | NP_001004464.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000875 AC: 22AN: 251378Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135848
GnomAD4 exome AF: 0.000129 AC: 189AN: 1461888Hom.: 0 Cov.: 31 AF XY: 0.000128 AC XY: 93AN XY: 727242
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.383C>G (p.P128R) alteration is located in exon 1 (coding exon 1) of the OR10G8 gene. This alteration results from a C to G substitution at nucleotide position 383, causing the proline (P) at amino acid position 128 to be replaced by an arginine (R). 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