rs41278022
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_138697.4(TAS1R1):c.1807C>T(p.Arg603Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00725 in 1,608,798 control chromosomes in the GnomAD database, including 66 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R603H) has been classified as Benign.
Frequency
Consequence
NM_138697.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS1R1 | NM_138697.4 | c.1807C>T | p.Arg603Cys | missense_variant | 6/6 | ENST00000333172.11 | |
LOC107984912 | XR_002958250.1 | n.87+482G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R1 | ENST00000333172.11 | c.1807C>T | p.Arg603Cys | missense_variant | 6/6 | 1 | NM_138697.4 | P1 | |
TAS1R1 | ENST00000415267.1 | c.610-431C>T | intron_variant | 1 | |||||
TAS1R1 | ENST00000351136.7 | c.1045C>T | p.Arg349Cys | missense_variant | 5/5 | 2 | |||
TAS1R1 | ENST00000411823.5 | c.*30C>T | 3_prime_UTR_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00553 AC: 841AN: 152090Hom.: 7 Cov.: 33
GnomAD3 exomes AF: 0.00611 AC: 1517AN: 248086Hom.: 11 AF XY: 0.00629 AC XY: 844AN XY: 134154
GnomAD4 exome AF: 0.00743 AC: 10819AN: 1456588Hom.: 59 Cov.: 31 AF XY: 0.00748 AC XY: 5414AN XY: 723740
GnomAD4 genome AF: 0.00553 AC: 841AN: 152210Hom.: 7 Cov.: 33 AF XY: 0.00481 AC XY: 358AN XY: 74410
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jun 01, 2024 | TAS1R1: BS2 - |
Benign, criteria provided, single submitter | clinical testing | Invitae | May 18, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at