1-247949773-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001001963.1(OR2L8):āc.916A>Gā(p.Arg306Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,646 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001001963.1 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OR2L8 | NM_001001963.1 | c.916A>G | p.Arg306Gly | missense_variant | 1/1 | ENST00000623922.1 | NP_001001963.1 | |
OR2L13 | NM_001304535.3 | c.-19+12389A>G | intron_variant | NP_001291464.1 | ||||
OR2L13 | NM_175911.5 | c.-144+12389A>G | intron_variant | NP_787107.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245958Hom.: 0 AF XY: 0.00000751 AC XY: 1AN XY: 133080
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459646Hom.: 0 Cov.: 34 AF XY: 0.00000413 AC XY: 3AN XY: 726128
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 09, 2023 | The c.916A>G (p.R306G) alteration is located in exon 1 (coding exon 1) of the OR2L8 gene. This alteration results from a A to G substitution at nucleotide position 916, causing the arginine (R) at amino acid position 306 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at