rs860170
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_016945.3(TAS2R16):c.665G>A(p.Arg222His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.686 in 1,613,532 control chromosomes in the GnomAD database, including 382,313 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_016945.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R16 | NM_016945.3 | c.665G>A | p.Arg222His | missense_variant | 1/1 | ENST00000249284.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R16 | ENST00000249284.3 | c.665G>A | p.Arg222His | missense_variant | 1/1 | NM_016945.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.739 AC: 112275AN: 151852Hom.: 42517 Cov.: 31
GnomAD3 exomes AF: 0.684 AC: 171207AN: 250376Hom.: 59369 AF XY: 0.681 AC XY: 92164AN XY: 135284
GnomAD4 exome AF: 0.680 AC: 993779AN: 1461560Hom.: 339726 Cov.: 70 AF XY: 0.680 AC XY: 494303AN XY: 727092
GnomAD4 genome ? AF: 0.740 AC: 112408AN: 151972Hom.: 42587 Cov.: 31 AF XY: 0.737 AC XY: 54723AN XY: 74246
ClinVar
Submissions by phenotype
TAS2R16-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 16, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at