12-10939045-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_023922.2(TAS2R14):āc.163C>Gā(p.Arg55Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,613,784 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R55Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_023922.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R14 | NM_023922.2 | c.163C>G | p.Arg55Gly | missense_variant | 1/1 | ENST00000537503.2 | |
PRH1-TAS2R14 | NM_001316893.2 | c.208-468C>G | intron_variant | ||||
PRH1-PRR4 | NR_037918.2 | n.544+34610C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R14 | ENST00000537503.2 | c.163C>G | p.Arg55Gly | missense_variant | 1/1 | NM_023922.2 | P1 | ||
ENST00000703543.1 | c.-59+34610C>G | intron_variant | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250736Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135556
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461614Hom.: 0 Cov.: 36 AF XY: 0.00000825 AC XY: 6AN XY: 727086
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2023 | The c.163C>G (p.R55G) alteration is located in exon 1 (coding exon 1) of the TAS2R14 gene. This alteration results from a C to G substitution at nucleotide position 163, causing the arginine (R) at amino acid position 55 to be replaced by a glycine (G). 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