chr11-55820115-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001001952.1(OR5D18):āc.486C>Gā(p.Cys162Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,758 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. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001001952.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR5D18 | NM_001001952.1 | c.486C>G | p.Cys162Trp | missense_variant | 1/1 | ENST00000333976.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR5D18 | ENST00000333976.7 | c.486C>G | p.Cys162Trp | missense_variant | 1/1 | NM_001001952.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151892Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251456Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135898
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461866Hom.: 0 Cov.: 36 AF XY: 0.0000124 AC XY: 9AN XY: 727238
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151892Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74186
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at