11-5151550-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012375.3(OR52A1):āc.820T>Cā(p.Tyr274His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000033 in 1,607,798 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y274C) has been classified as Uncertain significance.
Frequency
Consequence
NM_012375.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR52A1 | NM_012375.3 | c.820T>C | p.Tyr274His | missense_variant | 2/2 | ENST00000380367.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR52A1 | ENST00000380367.3 | c.820T>C | p.Tyr274His | missense_variant | 2/2 | NM_012375.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000205 AC: 3AN: 146016Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000639 AC: 16AN: 250562Hom.: 0 AF XY: 0.0000960 AC XY: 13AN XY: 135438
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461782Hom.: 0 Cov.: 29 AF XY: 0.0000495 AC XY: 36AN XY: 727194
GnomAD4 genome AF: 0.0000205 AC: 3AN: 146016Hom.: 0 Cov.: 33 AF XY: 0.0000140 AC XY: 1AN XY: 71246
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at