7-143222416-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_176882.2(TAS2R40):c.338C>T(p.Ala113Val) variant causes a missense change. The variant allele was found at a frequency of 0.00118 in 1,614,184 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176882.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000743 AC: 113AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000645 AC: 161AN: 249434Hom.: 0 AF XY: 0.000621 AC XY: 84AN XY: 135318
GnomAD4 exome AF: 0.00123 AC: 1795AN: 1461886Hom.: 2 Cov.: 31 AF XY: 0.00113 AC XY: 824AN XY: 727244
GnomAD4 genome AF: 0.000742 AC: 113AN: 152298Hom.: 0 Cov.: 32 AF XY: 0.000725 AC XY: 54AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.338C>T (p.A113V) alteration is located in exon 1 (coding exon 1) of the TAS2R40 gene. This alteration results from a C to T substitution at nucleotide position 338, causing the alanine (A) at amino acid position 113 to be replaced by a valine (V). 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