14-20060660-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001004717.1(OR4L1):c.616C>T(p.Leu206Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR4L1 | NM_001004717.1 | c.616C>T | p.Leu206Phe | missense_variant | 1/1 | ENST00000315683.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR4L1 | ENST00000315683.1 | c.616C>T | p.Leu206Phe | missense_variant | 1/1 | NM_001004717.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 251028Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135638
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461684Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 727128
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at