rs7111634
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001004744.1(OR8U3):āc.362A>Gā(p.Asp121Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0734 in 1,613,608 control chromosomes in the GnomAD database, including 5,011 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D121N) has been classified as Uncertain significance.
Frequency
Consequence
NM_001004744.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR8U3 | NM_001004744.1 | c.362A>G | p.Asp121Gly | missense_variant | 1/1 | ENST00000623286.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR8U3 | ENST00000623286.1 | c.362A>G | p.Asp121Gly | missense_variant | 1/1 | NM_001004744.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0579 AC: 8807AN: 152024Hom.: 379 Cov.: 32
GnomAD3 exomes AF: 0.0643 AC: 16135AN: 251040Hom.: 711 AF XY: 0.0660 AC XY: 8953AN XY: 135688
GnomAD4 exome AF: 0.0750 AC: 109633AN: 1461466Hom.: 4632 Cov.: 35 AF XY: 0.0747 AC XY: 54283AN XY: 727052
GnomAD4 genome ? AF: 0.0579 AC: 8803AN: 152142Hom.: 379 Cov.: 32 AF XY: 0.0584 AC XY: 4342AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at