1-1332061-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152228.3(TAS1R3):c.530G>A(p.Arg177Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000105 in 1,559,492 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R177W) has been classified as Uncertain significance.
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS1R3 | NM_152228.3 | c.530G>A | p.Arg177Gln | missense_variant | 3/6 | ENST00000339381.6 | |
TAS1R3 | XM_017002435.2 | c.530G>A | p.Arg177Gln | missense_variant | 3/5 | ||
TAS1R3 | XM_017002436.2 | c.530G>A | p.Arg177Gln | missense_variant | 3/5 | ||
TAS1R3 | XM_047431571.1 | c.530G>A | p.Arg177Gln | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R3 | ENST00000339381.6 | c.530G>A | p.Arg177Gln | missense_variant | 3/6 | 2 | NM_152228.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000109 AC: 16AN: 146764Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000181 AC: 43AN: 238042Hom.: 0 AF XY: 0.000206 AC XY: 27AN XY: 130884
GnomAD4 exome AF: 0.000104 AC: 147AN: 1412610Hom.: 1 Cov.: 75 AF XY: 0.000131 AC XY: 92AN XY: 702878
GnomAD4 genome ? AF: 0.000109 AC: 16AN: 146882Hom.: 0 Cov.: 33 AF XY: 0.000112 AC XY: 8AN XY: 71726
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 22, 2022 | The c.530G>A (p.R177Q) alteration is located in exon 3 (coding exon 3) of the TAS1R3 gene. This alteration results from a G to A substitution at nucleotide position 530, causing the arginine (R) at amino acid position 177 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at