rs5006883
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001004750.1(OR51B6):āc.574T>Cā(p.Phe192Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.256 in 1,612,566 control chromosomes in the GnomAD database, including 54,851 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_001004750.1 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 |
---|---|---|---|---|---|---|---|
OR51B6 | NM_001004750.1 | c.574T>C | p.Phe192Leu | missense_variant | 1/1 | ENST00000380219.1 | |
OR51B5 | NM_001005567.3 | c.-359-5171A>G | intron_variant | ||||
OR51B5 | NR_038321.2 | n.85-5171A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR51B6 | ENST00000380219.1 | c.574T>C | p.Phe192Leu | missense_variant | 1/1 | NM_001004750.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.265 AC: 40291AN: 152028Hom.: 5589 Cov.: 32
GnomAD3 exomes AF: 0.237 AC: 59658AN: 251330Hom.: 7662 AF XY: 0.237 AC XY: 32127AN XY: 135840
GnomAD4 exome AF: 0.255 AC: 373129AN: 1460420Hom.: 49252 Cov.: 45 AF XY: 0.254 AC XY: 184826AN XY: 726626
GnomAD4 genome ? AF: 0.265 AC: 40329AN: 152146Hom.: 5599 Cov.: 32 AF XY: 0.263 AC XY: 19533AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at