rs759426555
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.
The NM_001004705.2(OR4D10):c.365G>A(p.Arg122Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000235 in 1,613,984 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004705.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR4D10 | NM_001004705.2 | c.365G>A | p.Arg122Gln | missense_variant | Exon 3 of 3 | ENST00000530162.2 | NP_001004705.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 151986Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000200 AC: 5AN: 250364 AF XY: 0.00000737 show subpopulations
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727242 show subpopulations
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152102Hom.: 0 Cov.: 32 AF XY: 0.0000807 AC XY: 6AN XY: 74354 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.365G>A (p.R122Q) alteration is located in exon 1 (coding exon 1) of the OR4D10 gene. This alteration results from a G to A substitution at nucleotide position 365, causing the arginine (R) at amino acid position 122 to be replaced by a glutamine (Q). 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