rs41278020
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_138697.4(TAS1R1):c.329C>T(p.Ala110Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0159 in 1,614,170 control chromosomes in the GnomAD database, including 270 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_138697.4 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 |
---|---|---|---|---|---|---|---|
TAS1R1 | NM_138697.4 | c.329C>T | p.Ala110Val | missense_variant | 2/6 | ENST00000333172.11 | |
LOC107984912 | XR_002958250.1 | n.88-1063G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R1 | ENST00000333172.11 | c.329C>T | p.Ala110Val | missense_variant | 2/6 | 1 | NM_138697.4 | P1 | |
TAS1R1 | ENST00000415267.1 | c.107C>T | p.Ala36Val | missense_variant | 1/4 | 1 | |||
TAS1R1 | ENST00000351136.7 | c.329C>T | p.Ala110Val | missense_variant | 2/5 | 2 | |||
TAS1R1 | ENST00000411823.5 | c.107C>T | p.Ala36Val | missense_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0122 AC: 1861AN: 152188Hom.: 14 Cov.: 33
GnomAD3 exomes AF: 0.0118 AC: 2960AN: 251410Hom.: 31 AF XY: 0.0122 AC XY: 1661AN XY: 135878
GnomAD4 exome AF: 0.0163 AC: 23856AN: 1461864Hom.: 256 Cov.: 32 AF XY: 0.0163 AC XY: 11879AN XY: 727238
GnomAD4 genome AF: 0.0122 AC: 1860AN: 152306Hom.: 14 Cov.: 33 AF XY: 0.0113 AC XY: 840AN XY: 74472
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at