chr12-11091489-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_176884.2(TAS2R43):āc.741A>Gā(p.Ile247Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000367 in 1,361,290 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 (ā ).
Frequency
Consequence
NM_176884.2 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 |
---|---|---|---|---|---|---|---|
TAS2R43 | NM_176884.2 | c.741A>G | p.Ile247Met | missense_variant | 1/1 | ENST00000531678.1 | |
PRH1-TAS2R14 | NM_001316893.2 | c.-133-44301A>G | intron_variant | ||||
PRH1-PRR4 | NR_037918.2 | n.205-44301A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R43 | ENST00000531678.1 | c.741A>G | p.Ile247Met | missense_variant | 1/1 | NM_176884.2 | P1 | ||
TAS2R14 | ENST00000381852.4 | n.153-44301A>G | intron_variant, non_coding_transcript_variant | 2 | |||||
PRH1 | ENST00000541977.5 | n.124-44301A>G | intron_variant, non_coding_transcript_variant | 2 | |||||
PRH1 | ENST00000546265.1 | n.358+29521A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000230 AC: 3AN: 130620Hom.: 0 Cov.: 23
GnomAD3 exomes AF: 0.0000149 AC: 3AN: 201814Hom.: 1 AF XY: 0.00000909 AC XY: 1AN XY: 110018
GnomAD4 exome AF: 0.00000163 AC: 2AN: 1230670Hom.: 0 Cov.: 46 AF XY: 0.00000323 AC XY: 2AN XY: 619264
GnomAD4 genome AF: 0.0000230 AC: 3AN: 130620Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 63466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at