11-4545648-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_001004137.1(OR52M1):c.458G>A(p.Arg153Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000136 in 1,613,402 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001004137.1 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: 0.000612 AC: 93AN: 152040Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000172 AC: 43AN: 250248Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135212
GnomAD4 exome AF: 0.0000862 AC: 126AN: 1461244Hom.: 0 Cov.: 38 AF XY: 0.0000715 AC XY: 52AN XY: 726890
GnomAD4 genome AF: 0.000618 AC: 94AN: 152158Hom.: 0 Cov.: 32 AF XY: 0.000538 AC XY: 40AN XY: 74404
ClinVar
Submissions by phenotype
OR52M1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at