NM_012368.3:c.877C>T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_012368.3(OR2C1):c.877C>T(p.Arg293Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,613,508 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012368.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000562 AC: 14AN: 249056Hom.: 0 AF XY: 0.0000594 AC XY: 8AN XY: 134702
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461384Hom.: 0 Cov.: 34 AF XY: 0.0000289 AC XY: 21AN XY: 726968
GnomAD4 genome AF: 0.000118 AC: 18AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.000162 AC XY: 12AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.877C>T (p.R293W) alteration is located in exon 1 (coding exon 1) of the OR2C1 gene. This alteration results from a C to T substitution at nucleotide position 877, causing the arginine (R) at amino acid position 293 to be replaced by a tryptophan (W). 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