rs34810828
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152228.3(TAS1R3):c.2438G>A(p.Arg813Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,114 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_152228.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAS1R3 | NM_152228.3 | c.2438G>A | p.Arg813Lys | missense_variant | Exon 6 of 6 | ENST00000339381.6 | NP_689414.2 | |
TAS1R3 | XM_017002435.2 | c.2564G>A | p.Arg855Lys | missense_variant | Exon 5 of 5 | XP_016857924.1 | ||
TAS1R3 | XM_017002436.2 | c.2561G>A | p.Arg854Lys | missense_variant | Exon 5 of 5 | XP_016857925.1 | ||
TAS1R3 | XM_047431571.1 | c.2435G>A | p.Arg812Lys | missense_variant | Exon 6 of 6 | XP_047287527.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 33
GnomAD4 exome Cov.: 34
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152114Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74304
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at