11-59457412-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_001004708.1(OR4D6):āc.452G>Cā(p.Ser151Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.279 in 1,613,846 control chromosomes in the GnomAD database, including 65,838 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_001004708.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.222 AC: 33664AN: 151956Hom.: 4503 Cov.: 31
GnomAD3 exomes AF: 0.257 AC: 64528AN: 251332Hom.: 9033 AF XY: 0.260 AC XY: 35301AN XY: 135824
GnomAD4 exome AF: 0.285 AC: 416799AN: 1461772Hom.: 61338 Cov.: 39 AF XY: 0.284 AC XY: 206317AN XY: 727200
GnomAD4 genome AF: 0.221 AC: 33672AN: 152074Hom.: 4500 Cov.: 31 AF XY: 0.220 AC XY: 16383AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at