1-248626242-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001001964.2(OR2T11):c.887G>A(p.Gly296Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000574 in 1,568,828 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001964.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000699 AC: 1AN: 143056Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 244782Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132476
GnomAD4 exome AF: 0.00000561 AC: 8AN: 1425772Hom.: 1 Cov.: 37 AF XY: 0.00000704 AC XY: 5AN XY: 709884
GnomAD4 genome AF: 0.00000699 AC: 1AN: 143056Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 69722
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.887G>A (p.G296E) alteration is located in exon 1 (coding exon 1) of the OR2T11 gene. This alteration results from a G to A substitution at nucleotide position 887, causing the glycine (G) at amino acid position 296 to be replaced by a glutamic acid (E). 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