rs1015443
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_023920.2(TAS2R13):c.776A>T(p.Asn259Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,588 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N259S) has been classified as Likely benign.
Frequency
Consequence
NM_023920.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TAS2R13 | NM_023920.2 | c.776A>T | p.Asn259Ile | missense_variant | 1/1 | ENST00000390677.2 | NP_076409.1 | |
PRH1-PRR4 | NR_037918.2 | n.545-24248A>T | intron_variant, non_coding_transcript_variant | |||||
PRH1 | NM_001291314.2 | c.-58-24248A>T | intron_variant | NP_001278243.1 | ||||
PRH1 | NM_001291315.2 | c.104-25427A>T | intron_variant | NP_001278244.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAS2R13 | ENST00000390677.2 | c.776A>T | p.Asn259Ile | missense_variant | 1/1 | NM_023920.2 | ENSP00000375095 | P1 | ||
ENST00000703543.1 | c.-58-24248A>T | intron_variant | ENSP00000515364 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 151948Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250392Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135318
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461588Hom.: 0 Cov.: 49 AF XY: 0.00000138 AC XY: 1AN XY: 727072
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 151948Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74184
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at