rs28934580
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_000360.4(TH):c.917G>T(p.Arg306Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R306H) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000360.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TH | NM_000360.4 | c.917G>T | p.Arg306Leu | missense_variant | 8/13 | ENST00000352909.8 | |
TH | NM_199292.3 | c.1010G>T | p.Arg337Leu | missense_variant | 9/14 | ||
TH | NM_199293.3 | c.998G>T | p.Arg333Leu | missense_variant | 9/14 | ||
TH | XM_011520335.3 | c.929G>T | p.Arg310Leu | missense_variant | 8/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TH | ENST00000352909.8 | c.917G>T | p.Arg306Leu | missense_variant | 8/13 | 1 | NM_000360.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1406608Hom.: 0 Cov.: 63 AF XY: 0.00 AC XY: 0AN XY: 694580
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at