rs373419493
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005467.2(OR8B3):c.148G>T(p.Gly50Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G50S) has been classified as Likely benign.
Frequency
Consequence
NM_001005467.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR8B3 | NM_001005467.2 | c.148G>T | p.Gly50Cys | missense_variant | Exon 2 of 2 | ENST00000641139.1 | NP_001005467.1 | |
OR8B3 | XM_017017716.2 | c.148G>T | p.Gly50Cys | missense_variant | Exon 6 of 6 | XP_016873205.1 | ||
OR8B2 | XM_017017535.3 | c.-148+31G>T | intron_variant | Intron 1 of 2 | XP_016873024.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251088Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135682
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461620Hom.: 0 Cov.: 39 AF XY: 0.00000275 AC XY: 2AN XY: 727128
GnomAD4 genome Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at