1-1332057-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152228.3(TAS1R3):c.526G>A(p.Ala176Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000405 in 1,605,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS1R3 | NM_152228.3 | c.526G>A | p.Ala176Thr | missense_variant | 3/6 | ENST00000339381.6 | |
TAS1R3 | XM_017002435.2 | c.526G>A | p.Ala176Thr | missense_variant | 3/5 | ||
TAS1R3 | XM_017002436.2 | c.526G>A | p.Ala176Thr | missense_variant | 3/5 | ||
TAS1R3 | XM_047431571.1 | c.526G>A | p.Ala176Thr | missense_variant | 3/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R3 | ENST00000339381.6 | c.526G>A | p.Ala176Thr | missense_variant | 3/6 | 2 | NM_152228.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000989 AC: 15AN: 151636Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000587 AC: 14AN: 238456Hom.: 0 AF XY: 0.0000458 AC XY: 6AN XY: 131098
GnomAD4 exome AF: 0.0000310 AC: 45AN: 1453302Hom.: 0 Cov.: 76 AF XY: 0.0000249 AC XY: 18AN XY: 723288
GnomAD4 genome ? AF: 0.000132 AC: 20AN: 151750Hom.: 0 Cov.: 33 AF XY: 0.000162 AC XY: 12AN XY: 74140
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2021 | The c.526G>A (p.A176T) 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 526, causing the alanine (A) at amino acid position 176 to be replaced by a threonine (T). 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