chr7-143478489-C-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_176883.2(TAS2R41):c.617C>A(p.Ser206Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176883.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TAS2R41 | ENST00000408916.1 | c.617C>A | p.Ser206Tyr | missense_variant | Exon 1 of 1 | 6 | NM_176883.2 | ENSP00000386201.1 | ||
EPHA1-AS1 | ENST00000429289.5 | n.207-26285C>A | intron_variant | Intron 2 of 4 | 1 | |||||
EPHA1-AS1 | ENST00000690912.1 | n.228-17477C>A | intron_variant | Intron 2 of 2 | ||||||
EPHA1-AS1 | ENST00000703017.1 | n.206-17477C>A | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152082Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 249254Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135238
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461888Hom.: 0 Cov.: 35 AF XY: 0.0000275 AC XY: 20AN XY: 727242
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152082Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.617C>A (p.S206Y) alteration is located in exon 1 (coding exon 1) of the TAS2R41 gene. This alteration results from a C to A substitution at nucleotide position 617, causing the serine (S) at amino acid position 206 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at