1-1331509-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152228.3(TAS1R3):c.164C>A(p.Thr55Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000237 in 1,600,930 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152228.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.164C>A | p.Thr55Lys | missense_variant | Exon 1 of 6 | ENST00000339381.6 | NP_689414.2 | |
TAS1R3 | XM_017002435.2 | c.164C>A | p.Thr55Lys | missense_variant | Exon 1 of 5 | XP_016857924.1 | ||
TAS1R3 | XM_017002436.2 | c.164C>A | p.Thr55Lys | missense_variant | Exon 1 of 5 | XP_016857925.1 | ||
TAS1R3 | XM_047431571.1 | c.164C>A | p.Thr55Lys | missense_variant | Exon 1 of 6 | XP_047287527.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152242Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000323 AC: 7AN: 216762Hom.: 0 AF XY: 0.0000251 AC XY: 3AN XY: 119616
GnomAD4 exome AF: 0.00000690 AC: 10AN: 1448688Hom.: 0 Cov.: 31 AF XY: 0.00000417 AC XY: 3AN XY: 719946
GnomAD4 genome AF: 0.000184 AC: 28AN: 152242Hom.: 0 Cov.: 34 AF XY: 0.000215 AC XY: 16AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.164C>A (p.T55K) alteration is located in exon 1 (coding exon 1) of the TAS1R3 gene. This alteration results from a C to A substitution at nucleotide position 164, causing the threonine (T) at amino acid position 55 to be replaced by a lysine (K). 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