chr1-6574673-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_138697.4(TAS1R1):āc.541C>Gā(p.Gln181Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00112 in 1,613,264 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_138697.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TAS1R1 | NM_138697.4 | c.541C>G | p.Gln181Glu | missense_variant | 3/6 | ENST00000333172.11 | |
LOC107984912 | XR_002958250.1 | n.87+4674G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TAS1R1 | ENST00000333172.11 | c.541C>G | p.Gln181Glu | missense_variant | 3/6 | 1 | NM_138697.4 | P1 | |
TAS1R1 | ENST00000415267.1 | c.276-1742C>G | intron_variant | 1 | |||||
TAS1R1 | ENST00000411823.5 | c.319C>G | p.Gln107Glu | missense_variant | 2/3 | 2 | |||
TAS1R1 | ENST00000351136.7 | c.499-1742C>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.00617 AC: 939AN: 152236Hom.: 14 Cov.: 32
GnomAD3 exomes AF: 0.00146 AC: 365AN: 250658Hom.: 2 AF XY: 0.00108 AC XY: 146AN XY: 135442
GnomAD4 exome AF: 0.000591 AC: 863AN: 1460910Hom.: 6 Cov.: 31 AF XY: 0.000506 AC XY: 368AN XY: 726616
GnomAD4 genome AF: 0.00618 AC: 942AN: 152354Hom.: 14 Cov.: 32 AF XY: 0.00601 AC XY: 448AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Oct 09, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at