12-10997512-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_176889.4(TAS2R20):c.364A>G(p.Lys122Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000991 in 1,613,816 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R20 | NM_176889.4 | c.364A>G | p.Lys122Glu | missense_variant | 1/1 | ENST00000538986.2 | |
PRH1-TAS2R14 | NM_001316893.2 | c.141-23791A>G | intron_variant | ||||
PRH1-PRR4 | NR_037918.2 | n.478-23791A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R20 | ENST00000538986.2 | c.364A>G | p.Lys122Glu | missense_variant | 1/1 | NM_176889.4 | P1 | ||
ENST00000703543.1 | c.-125-23791A>G | intron_variant | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250352Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135284
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461646Hom.: 0 Cov.: 48 AF XY: 0.00000825 AC XY: 6AN XY: 727092
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.364A>G (p.K122E) alteration is located in exon 1 (coding exon 1) of the TAS2R20 gene. This alteration results from a A to G substitution at nucleotide position 364, causing the lysine (K) at amino acid position 122 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