chr7-143184388-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_176881.2(TAS2R39):c.970C>T(p.Arg324Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000416 in 1,612,398 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176881.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R39 | NM_176881.2 | c.970C>T | p.Arg324Trp | missense_variant | 1/1 | ENST00000446620.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R39 | ENST00000446620.1 | c.970C>T | p.Arg324Trp | missense_variant | 1/1 | NM_176881.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000461 AC: 7AN: 151940Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000365 AC: 9AN: 246902Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133892
GnomAD4 exome AF: 0.0000411 AC: 60AN: 1460458Hom.: 0 Cov.: 32 AF XY: 0.0000441 AC XY: 32AN XY: 726430
GnomAD4 genome ? AF: 0.0000461 AC: 7AN: 151940Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74202
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 19, 2022 | The c.970C>T (p.R324W) alteration is located in exon 1 (coding exon 1) of the TAS2R39 gene. This alteration results from a C to T substitution at nucleotide position 970, causing the arginine (R) at amino acid position 324 to be replaced by a tryptophan (W). 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