rs17237198
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001396061.1(OR5BS1P):c.268G>A(p.Glu90Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0836 in 401,402 control chromosomes in the GnomAD database, including 1,490 homozygotes. In-silico tool predicts a benign outcome for this variant. 6/8 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_001396061.1 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 |
---|---|---|---|---|---|---|---|
OR5BS1P | NM_001396061.1 | c.268G>A | p.Glu90Lys | missense_variant | 1/2 | ENST00000328207.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR5BS1P | ENST00000328207.6 | c.268G>A | p.Glu90Lys | missense_variant | 1/2 | NM_001396061.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0823 AC: 12513AN: 152058Hom.: 531 Cov.: 32
GnomAD4 exome AF: 0.0845 AC: 21056AN: 249226Hom.: 958 Cov.: 0 AF XY: 0.0853 AC XY: 10770AN XY: 126294
GnomAD4 genome ? AF: 0.0823 AC: 12518AN: 152176Hom.: 532 Cov.: 32 AF XY: 0.0800 AC XY: 5947AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at