rs3741845
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_023917.2(TAS2R9):āc.560T>Cā(p.Val187Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.593 in 1,612,848 control chromosomes in the GnomAD database, including 289,540 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_023917.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.522 AC: 78951AN: 151300Hom.: 22815 Cov.: 29
GnomAD3 exomes AF: 0.603 AC: 150804AN: 250170Hom.: 46950 AF XY: 0.610 AC XY: 82439AN XY: 135210
GnomAD4 exome AF: 0.601 AC: 877800AN: 1461430Hom.: 266736 Cov.: 65 AF XY: 0.602 AC XY: 437894AN XY: 726996
GnomAD4 genome AF: 0.521 AC: 78963AN: 151418Hom.: 22804 Cov.: 29 AF XY: 0.527 AC XY: 38960AN XY: 73926
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at