rs8192620
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Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_138327.4(TAAR1):āc.864A>Gā(p.Val288=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.225 in 1,612,680 control chromosomes in the GnomAD database, including 42,071 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 0.19 ( 3082 hom., cov: 32)
Exomes š: 0.23 ( 38989 hom. )
Consequence
TAAR1
NM_138327.4 synonymous
NM_138327.4 synonymous
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.886
Genes affected
TAAR1 (HGNC:17734): (trace amine associated receptor 1) The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]
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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=-0.86).
BP7
?
Synonymous conserved (PhyloP=-0.886 with no splicing effect.
BA1
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GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.32 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAAR1 | NM_138327.4 | c.864A>G | p.Val288= | synonymous_variant | 2/2 | ENST00000275216.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAAR1 | ENST00000275216.3 | c.864A>G | p.Val288= | synonymous_variant | 2/2 | NM_138327.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.193 AC: 29321AN: 151868Hom.: 3079 Cov.: 32
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GnomAD3 exomes AF: 0.220 AC: 54971AN: 250130Hom.: 6412 AF XY: 0.223 AC XY: 30204AN XY: 135168
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GnomAD4 exome AF: 0.228 AC: 332775AN: 1460694Hom.: 38989 Cov.: 34 AF XY: 0.228 AC XY: 165411AN XY: 726606
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GnomAD4 genome ? AF: 0.193 AC: 29336AN: 151986Hom.: 3082 Cov.: 32 AF XY: 0.194 AC XY: 14426AN XY: 74300
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Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
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DANN
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at