chr7-143478447-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_176883.2(TAS2R41):c.575C>T(p.Pro192Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,866 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P192H) has been classified as Uncertain significance.
Frequency
Consequence
NM_176883.2 missense
Scores
Clinical Significance
Conservation
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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.575C>T | p.Pro192Leu | missense_variant | Exon 1 of 1 | 6 | NM_176883.2 | ENSP00000386201.1 | ||
EPHA1-AS1 | ENST00000429289.5 | n.207-26327C>T | intron_variant | Intron 2 of 4 | 1 | |||||
EPHA1-AS1 | ENST00000690912.1 | n.228-17519C>T | intron_variant | Intron 2 of 2 | ||||||
EPHA1-AS1 | ENST00000703017.1 | n.206-17519C>T | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152014Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461866Hom.: 0 Cov.: 35 AF XY: 0.00000138 AC XY: 1AN XY: 727234
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 152132Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.