NM_001005173.3:c.807C>A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001005173.3(OR52L1):c.807C>A(p.Phe269Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000762 in 1,613,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001005173.3 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: 0.0000526 AC: 8AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 249216Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135186
GnomAD4 exome AF: 0.0000787 AC: 115AN: 1461694Hom.: 0 Cov.: 35 AF XY: 0.0000674 AC XY: 49AN XY: 727130
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.807C>A (p.F269L) alteration is located in exon 1 (coding exon 1) of the OR52L1 gene. This alteration results from a C to A substitution at nucleotide position 807, causing the phenylalanine (F) at amino acid position 269 to be replaced by a leucine (L). 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