rs4908932
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The 1-6579787-G-T variant causes a downstream gene change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.167 in 705,564 control chromosomes in the GnomAD database, including 11,330 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: 𝑓 0.17 ( 2510 hom., cov: 33)
Exomes 𝑓: 0.17 ( 8820 hom. )
Consequence
TAS1R1
NM_138697.4 downstream_gene
NM_138697.4 downstream_gene
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.372
Genes affected
TAS1R1 (HGNC:14448): (taste 1 receptor member 1) The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.85).
BA1
?
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.27 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS1R1 | NM_138697.4 | downstream_gene_variant | ENST00000333172.11 | ||||
TAS1R1 | NM_177540.3 | downstream_gene_variant | |||||
TAS1R1 | XM_011542203.2 | downstream_gene_variant | |||||
TAS1R1 | XM_011542206.3 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R1 | ENST00000333172.11 | downstream_gene_variant | 1 | NM_138697.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.167 AC: 25329AN: 152126Hom.: 2505 Cov.: 33
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GnomAD4 exome AF: 0.167 AC: 92180AN: 553320Hom.: 8820 Cov.: 7 AF XY: 0.164 AC XY: 46731AN XY: 284358
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GnomAD4 genome ? AF: 0.166 AC: 25339AN: 152244Hom.: 2510 Cov.: 33 AF XY: 0.168 AC XY: 12475AN XY: 74446
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at