1-6575171-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138697.4(TAS1R1):c.1039A>C(p.Lys347Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 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. K347E) has been classified as Likely benign.
Frequency
Consequence
NM_138697.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAS1R1 | ENST00000333172.11 | c.1039A>C | p.Lys347Gln | missense_variant | 3/6 | 1 | NM_138697.4 | ENSP00000331867.6 | ||
TAS1R1 | ENST00000415267.1 | c.274-1244A>C | intron_variant | 1 | ENSP00000408448.1 | |||||
TAS1R1 | ENST00000411823.5 | c.814A>C | p.Lys272Gln | missense_variant | 2/3 | 2 | ENSP00000414166.1 | |||
TAS1R1 | ENST00000351136.7 | c.499-1244A>C | intron_variant | 2 | ENSP00000312558.5 |
Frequencies
GnomAD3 genomes Cov.: 36
GnomAD4 exome Cov.: 88
GnomAD4 genome Cov.: 36
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at