chr14-21665549-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001001912.3(OR4E2):c.467C>T(p.Ser156Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,614,116 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001912.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR4E2 | NM_001001912.3 | c.467C>T | p.Ser156Leu | missense_variant | Exon 4 of 4 | ENST00000641524.1 | NP_001001912.2 | |
TRA | n.21665549C>T | intragenic_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR4E2 | ENST00000641524.1 | c.467C>T | p.Ser156Leu | missense_variant | Exon 4 of 4 | NM_001001912.3 | ENSP00000493386.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152122Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000521 AC: 13AN: 249436Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135314
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461876Hom.: 0 Cov.: 39 AF XY: 0.0000234 AC XY: 17AN XY: 727244
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152240Hom.: 0 Cov.: 31 AF XY: 0.0000537 AC XY: 4AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.467C>T (p.S156L) alteration is located in exon 1 (coding exon 1) of the OR4E2 gene. This alteration results from a C to T substitution at nucleotide position 467, causing the serine (S) at amino acid position 156 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