rs846664
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_016945.3(TAS2R16):āc.516T>Gā(p.Asn172Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0153 in 1,613,670 control chromosomes in the GnomAD database, including 3,224 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 Affects,risk factor (no stars).
Frequency
Consequence
NM_016945.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R16 | NM_016945.3 | c.516T>G | p.Asn172Lys | missense_variant | 1/1 | ENST00000249284.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R16 | ENST00000249284.3 | c.516T>G | p.Asn172Lys | missense_variant | 1/1 | NM_016945.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0810 AC: 12296AN: 151880Hom.: 1682 Cov.: 32
GnomAD3 exomes AF: 0.0214 AC: 5362AN: 250772Hom.: 732 AF XY: 0.0157 AC XY: 2132AN XY: 135494
GnomAD4 exome AF: 0.00848 AC: 12395AN: 1461672Hom.: 1536 Cov.: 33 AF XY: 0.00731 AC XY: 5317AN XY: 727140
GnomAD4 genome ? AF: 0.0810 AC: 12318AN: 151998Hom.: 1688 Cov.: 32 AF XY: 0.0772 AC XY: 5733AN XY: 74292
ClinVar
Submissions by phenotype
Alcohol dependence, susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Feb 01, 2007 | - - |
BETA-GLUCOPYRANOSIDE TASTING Other:1
Affects, no assertion criteria provided | literature only | OMIM | Feb 01, 2007 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at