20-45375157-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_014477.3(TP53TG5):c.650G>A(p.Arg217Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000052 in 1,614,070 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014477.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TP53TG5 | NM_014477.3 | c.650G>A | p.Arg217Gln | missense_variant | Exon 4 of 5 | ENST00000372726.5 | NP_055292.1 | |
TP53TG5 | XM_011528790.3 | c.602G>A | p.Arg201Gln | missense_variant | Exon 4 of 5 | XP_011527092.1 | ||
SYS1 | NM_001099791.3 | c.*863C>T | 3_prime_UTR_variant | Exon 4 of 4 | NP_001093261.1 | |||
SYS1-DBNDD2 | NR_003189.2 | n.380+9471C>T | intron_variant | Intron 3 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251430Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135906
GnomAD4 exome AF: 0.0000534 AC: 78AN: 1461868Hom.: 0 Cov.: 30 AF XY: 0.0000523 AC XY: 38AN XY: 727240
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.650G>A (p.R217Q) alteration is located in exon 4 (coding exon 4) of the TP53TG5 gene. This alteration results from a G to A substitution at nucleotide position 650, causing the arginine (R) at amino acid position 217 to be replaced by a glutamine (Q). 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