rs7934354
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001005289.5(OR52H1):āc.830T>Cā(p.Met277Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0438 in 1,613,792 control chromosomes in the GnomAD database, including 6,349 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001005289.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR52H1 | NM_001005289.5 | c.830T>C | p.Met277Thr | missense_variant | 2/2 | ENST00000322653.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR52H1 | ENST00000322653.7 | c.830T>C | p.Met277Thr | missense_variant | 2/2 | NM_001005289.5 | P1 | ||
OR52H1 | ENST00000641796.2 | c.830T>C | p.Met277Thr | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0774 AC: 11752AN: 151898Hom.: 979 Cov.: 32
GnomAD3 exomes AF: 0.0809 AC: 20330AN: 251442Hom.: 1926 AF XY: 0.0778 AC XY: 10572AN XY: 135892
GnomAD4 exome AF: 0.0403 AC: 58886AN: 1461776Hom.: 5370 Cov.: 31 AF XY: 0.0419 AC XY: 30485AN XY: 727206
GnomAD4 genome ? AF: 0.0774 AC: 11772AN: 152016Hom.: 979 Cov.: 32 AF XY: 0.0821 AC XY: 6099AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at