1-248473448-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005495.1(OR2T3):āc.98A>Cā(p.Tyr33Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001005495.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2T3 | NM_001005495.1 | c.98A>C | p.Tyr33Ser | missense_variant | 1/1 | ENST00000359594.3 | NP_001005495.1 | |
LOC105373279 | XR_007067006.1 | n.136-3289T>G | intron_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.47e-7 AC: 1AN: 1339150Hom.: 0 Cov.: 24 AF XY: 0.00000149 AC XY: 1AN XY: 670252
GnomAD4 genome Cov.: 25
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.98A>C (p.Y33S) alteration is located in exon 1 (coding exon 1) of the OR2T3 gene. This alteration results from a A to C substitution at nucleotide position 98, causing the tyrosine (Y) at amino acid position 33 to be replaced by a serine (S). 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.