14-20060895-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004717.1(OR4L1):c.851C>T(p.Pro284Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000936 in 1,603,154 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004717.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151966Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000249 AC: 6AN: 241160Hom.: 0 AF XY: 0.0000231 AC XY: 3AN XY: 130006
GnomAD4 exome AF: 0.00000689 AC: 10AN: 1451188Hom.: 0 Cov.: 31 AF XY: 0.00000970 AC XY: 7AN XY: 721358
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151966Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74206
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.851C>T (p.P284L) alteration is located in exon 1 (coding exon 1) of the OR4L1 gene. This alteration results from a C to T substitution at nucleotide position 851, causing the proline (P) at amino acid position 284 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