1-248180551-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004688.2(OR2M2):c.566G>A(p.Cys189Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000149 in 1,613,744 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004688.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2M2 | NM_001004688.2 | c.566G>A | p.Cys189Tyr | missense_variant | Exon 2 of 2 | ENST00000641836.1 | NP_001004688.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152126Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000757 AC: 19AN: 251128Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135712
GnomAD4 exome AF: 0.000154 AC: 225AN: 1461618Hom.: 1 Cov.: 72 AF XY: 0.000144 AC XY: 105AN XY: 727124
GnomAD4 genome AF: 0.000105 AC: 16AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.566G>A (p.C189Y) alteration is located in exon 1 (coding exon 1) of the OR2M2 gene. This alteration results from a G to A substitution at nucleotide position 566, causing the cysteine (C) at amino acid position 189 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