7-143184226-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_176881.2(TAS2R39):c.808C>T(p.Leu270Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,613,724 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176881.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R39 | NM_176881.2 | c.808C>T | p.Leu270Phe | missense_variant | 1/1 | ENST00000446620.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R39 | ENST00000446620.1 | c.808C>T | p.Leu270Phe | missense_variant | 1/1 | NM_176881.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000724 AC: 11AN: 151996Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249292Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135250
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461610Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727092
GnomAD4 genome ? AF: 0.0000723 AC: 11AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.808C>T (p.L270F) alteration is located in exon 1 (coding exon 1) of the TAS2R39 gene. This alteration results from a C to T substitution at nucleotide position 808, causing the leucine (L) at amino acid position 270 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