1-248295220-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001004692.2(OR2T12):c.359G>A(p.Arg120His) variant causes a missense change. The variant allele was found at a frequency of 0.00000621 in 1,609,216 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004692.2 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: 0.0000133 AC: 2AN: 150494Hom.: 0 Cov.: 27
GnomAD3 exomes AF: 0.00000533 AC: 1AN: 187446Hom.: 0 AF XY: 0.00000997 AC XY: 1AN XY: 100286
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1458722Hom.: 0 Cov.: 72 AF XY: 0.00000551 AC XY: 4AN XY: 725630
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150494Hom.: 0 Cov.: 27 AF XY: 0.0000273 AC XY: 2AN XY: 73350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.359G>A (p.R120H) alteration is located in exon 1 (coding exon 1) of the OR2T12 gene. This alteration results from a G to A substitution at nucleotide position 359, causing the arginine (R) at amino acid position 120 to be replaced by a histidine (H). 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