12-10802067-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_023919.2(TAS2R7):c.504A>C(p.Leu168Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000446 in 1,613,918 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_023919.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R7 | NM_023919.2 | c.504A>C | p.Leu168Phe | missense_variant | 1/1 | ENST00000240687.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R7 | ENST00000240687.2 | c.504A>C | p.Leu168Phe | missense_variant | 1/1 | NM_023919.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000210 AC: 32AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 250862Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135600
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461654Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727120
GnomAD4 genome ? AF: 0.000210 AC: 32AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74442
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 06, 2023 | The c.504A>C (p.L168F) alteration is located in exon 1 (coding exon 1) of the TAS2R7 gene. This alteration results from a A to C substitution at nucleotide position 504, causing the leucine (L) at amino acid position 168 to be replaced by a phenylalanine (F). 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