rs619381
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_023919.2(TAS2R7):c.912G>A(p.Met304Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.119 in 1,609,374 control chromosomes in the GnomAD database, including 12,350 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_023919.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS2R7 | NM_023919.2 | c.912G>A | p.Met304Ile | missense_variant | 1/1 | ENST00000240687.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS2R7 | ENST00000240687.2 | c.912G>A | p.Met304Ile | missense_variant | 1/1 | NM_023919.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0901 AC: 13698AN: 152090Hom.: 856 Cov.: 32
GnomAD3 exomes AF: 0.115 AC: 28743AN: 250120Hom.: 1859 AF XY: 0.118 AC XY: 15926AN XY: 135142
GnomAD4 exome AF: 0.122 AC: 177277AN: 1457166Hom.: 11493 Cov.: 31 AF XY: 0.124 AC XY: 89553AN XY: 725068
GnomAD4 genome ? AF: 0.0901 AC: 13708AN: 152208Hom.: 857 Cov.: 32 AF XY: 0.0901 AC XY: 6708AN XY: 74414
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at