1-248650349-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001001824.2(OR2T27):c.536G>A(p.Cys179Tyr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001824.2 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 Cov.: 15
GnomAD4 exome Cov.: 22
GnomAD4 genome Cov.: 15
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.536G>A (p.C179Y) alteration is located in exon 1 (coding exon 1) of the OR2T27 gene. This alteration results from a G to A substitution at nucleotide position 536, causing the cysteine (C) at amino acid position 179 to be replaced by a tyrosine (Y). 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
Publications
No publications associated with this variant yet.