rs367634248
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001005163.2(OR52D1):āc.523C>Gā(p.Arg175Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,692 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. R175C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001005163.2 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 |
---|---|---|---|---|---|---|---|---|
OR52D1 | NM_001005163.2 | c.523C>G | p.Arg175Gly | missense_variant | Exon 1 of 1 | ENST00000322641.5 | NP_001005163.1 | |
OR51B5 | NM_001005567.3 | c.-360+16340G>C | intron_variant | Intron 1 of 4 | NP_001005567.2 | |||
OR51B5 | NR_038321.2 | n.84+16340G>C | intron_variant | Intron 1 of 4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OR52D1 | ENST00000322641.5 | c.523C>G | p.Arg175Gly | missense_variant | Exon 1 of 1 | 6 | NM_001005163.2 | ENSP00000326232.5 | ||
ENSG00000239920 | ENST00000380259.7 | n.*739+101596G>C | intron_variant | Intron 5 of 7 | 5 | ENSP00000369609.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461692Hom.: 0 Cov.: 64 AF XY: 0.00000138 AC XY: 1AN XY: 727162
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.