rs17197261
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001005465.2(OR10G3):āc.714T>Gā(p.Ala238=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.117 in 1,614,158 control chromosomes in the GnomAD database, including 13,482 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.
Frequency
Genomes: š 0.097 ( 1178 hom., cov: 32)
Exomes š: 0.12 ( 12304 hom. )
Consequence
OR10G3
NM_001005465.2 synonymous
NM_001005465.2 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.20
Genes affected
OR10G3 (HGNC:8171): (olfactory receptor family 10 subfamily G member 3) Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.63).
BP7
?
Synonymous conserved (PhyloP=-1.2 with no splicing effect.
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.232 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OR10G3 | NM_001005465.2 | c.714T>G | p.Ala238= | synonymous_variant | 2/2 | ENST00000641040.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OR10G3 | ENST00000641040.1 | c.714T>G | p.Ala238= | synonymous_variant | 2/2 | NM_001005465.2 | P1 | ||
OR10G3 | ENST00000641185.1 | c.714T>G | p.Ala238= | synonymous_variant | 3/3 | P1 | |||
OR10G3 | ENST00000641655.1 | n.342T>G | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes ? AF: 0.0972 AC: 14792AN: 152174Hom.: 1173 Cov.: 32
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GnomAD3 exomes AF: 0.127 AC: 31789AN: 251224Hom.: 3400 AF XY: 0.118 AC XY: 15999AN XY: 135750
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GnomAD4 exome AF: 0.119 AC: 173451AN: 1461866Hom.: 12304 Cov.: 47 AF XY: 0.116 AC XY: 84518AN XY: 727226
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GnomAD4 genome ? AF: 0.0972 AC: 14807AN: 152292Hom.: 1178 Cov.: 32 AF XY: 0.0966 AC XY: 7192AN XY: 74474
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at