rs28374389
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152232.6(TAS1R2):āc.1456A>Gā(p.Ile486Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.197 in 1,613,740 control chromosomes in the GnomAD database, including 33,166 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_152232.6 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 |
---|---|---|---|---|---|---|---|
TAS1R2 | NM_152232.6 | c.1456A>G | p.Ile486Val | missense_variant | 4/6 | ENST00000375371.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R2 | ENST00000375371.4 | c.1456A>G | p.Ile486Val | missense_variant | 4/6 | 2 | NM_152232.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.187 AC: 28381AN: 152108Hom.: 2978 Cov.: 33
GnomAD3 exomes AF: 0.179 AC: 44721AN: 249630Hom.: 4530 AF XY: 0.177 AC XY: 23898AN XY: 135036
GnomAD4 exome AF: 0.198 AC: 289409AN: 1461514Hom.: 30179 Cov.: 34 AF XY: 0.195 AC XY: 141683AN XY: 727048
GnomAD4 genome ? AF: 0.187 AC: 28408AN: 152226Hom.: 2987 Cov.: 33 AF XY: 0.187 AC XY: 13920AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at