rs12279895
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001005469.2(OR5B3):āc.887A>Gā(p.Lys296Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.347 in 1,605,970 control chromosomes in the GnomAD database, including 99,988 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 same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001005469.2 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 |
---|---|---|---|---|---|---|---|
OR5B3 | NM_001005469.2 | c.887A>G | p.Lys296Arg | missense_variant | 2/2 | ENST00000641865.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR5B3 | ENST00000641865.1 | c.887A>G | p.Lys296Arg | missense_variant | 2/2 | NM_001005469.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.329 AC: 49989AN: 151916Hom.: 8305 Cov.: 32
GnomAD3 exomes AF: 0.312 AC: 78260AN: 251074Hom.: 12969 AF XY: 0.313 AC XY: 42525AN XY: 135682
GnomAD4 exome AF: 0.349 AC: 507755AN: 1453936Hom.: 91684 Cov.: 35 AF XY: 0.348 AC XY: 251674AN XY: 723740
GnomAD4 genome ? AF: 0.329 AC: 50004AN: 152034Hom.: 8304 Cov.: 32 AF XY: 0.325 AC XY: 24125AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at