1-248638812-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP3
The NM_001001827.2(OR2T35):c.447G>C(p.Trp149Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001827.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 57252Hom.: 0 Cov.: 8 FAILED QC
GnomAD3 exomes AF: 0.000198 AC: 20AN: 101186Hom.: 0 AF XY: 0.000226 AC XY: 12AN XY: 53138
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000947 AC: 89AN: 940210Hom.: 0 Cov.: 13 AF XY: 0.0000743 AC XY: 36AN XY: 484414
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 57252Hom.: 0 Cov.: 8 AF XY: 0.00 AC XY: 0AN XY: 27382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.447G>C (p.W149C) alteration is located in exon 1 (coding exon 1) of the OR2T35 gene. This alteration results from a G to C substitution at nucleotide position 447, causing the tryptophan (W) at amino acid position 149 to be replaced by a cysteine (C). 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