12-10997472-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_176889.4(TAS2R20):c.404G>A(p.Gly135Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000632 in 1,613,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176889.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAS2R20 | ENST00000538986.2 | c.404G>A | p.Gly135Glu | missense_variant | Exon 1 of 1 | 6 | NM_176889.4 | ENSP00000441624.1 | ||
ENSG00000275778 | ENST00000703543.1 | c.-125-23751G>A | intron_variant | Intron 1 of 3 | ENSP00000515364.1 |
Frequencies
GnomAD3 genomes AF: 0.000349 AC: 53AN: 151774Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000918 AC: 23AN: 250576Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135408
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461752Hom.: 0 Cov.: 47 AF XY: 0.0000261 AC XY: 19AN XY: 727174
GnomAD4 genome AF: 0.000349 AC: 53AN: 151774Hom.: 0 Cov.: 33 AF XY: 0.000229 AC XY: 17AN XY: 74086
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.404G>A (p.G135E) alteration is located in exon 1 (coding exon 1) of the TAS2R20 gene. This alteration results from a G to A substitution at nucleotide position 404, causing the glycine (G) at amino acid position 135 to be replaced by a glutamic acid (E). 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