chr22-50525807-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000252029.8(TYMP):āc.1412C>Gā(p.Ser471Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000373 in 1,610,356 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. S471L) has been classified as Benign.
Frequency
Consequence
ENST00000252029.8 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TYMP | NM_001953.5 | c.1412C>G | p.Ser471Trp | missense_variant | 10/10 | ENST00000252029.8 | NP_001944.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TYMP | ENST00000252029.8 | c.1412C>G | p.Ser471Trp | missense_variant | 10/10 | 1 | NM_001953.5 | ENSP00000252029 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 35
GnomAD3 exomes AF: 0.0000130 AC: 3AN: 230034Hom.: 0 AF XY: 0.0000235 AC XY: 3AN XY: 127710
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1458142Hom.: 0 Cov.: 39 AF XY: 0.00000689 AC XY: 5AN XY: 725376
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 35 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at