8-166570-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP3
The NM_001005504.1(OR4F21):c.455G>C(p.Gly152Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005504.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 11AN: 50182Hom.: 1 Cov.: 6 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000510 AC: 29AN: 568390Hom.: 7 Cov.: 7 AF XY: 0.0000295 AC XY: 9AN XY: 304630
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000219 AC: 11AN: 50182Hom.: 1 Cov.: 6 AF XY: 0.000297 AC XY: 7AN XY: 23564
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.455G>C (p.G152A) alteration is located in exon 1 (coding exon 1) of the OR4F21 gene. This alteration results from a G to C substitution at nucleotide position 455, causing the glycine (G) at amino acid position 152 to be replaced by an alanine (A). 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