20-45375074-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014477.3(TP53TG5):c.733G>A(p.Ala245Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000806 in 1,613,830 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TP53TG5 | NM_014477.3 | c.733G>A | p.Ala245Thr | missense_variant | Exon 4 of 5 | ENST00000372726.5 | NP_055292.1 | |
TP53TG5 | XM_011528790.3 | c.685G>A | p.Ala229Thr | missense_variant | Exon 4 of 5 | XP_011527092.1 | ||
SYS1 | NM_001099791.3 | c.*780C>T | 3_prime_UTR_variant | Exon 4 of 4 | NP_001093261.1 | |||
SYS1-DBNDD2 | NR_003189.2 | n.380+9388C>T | intron_variant | Intron 3 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 249872Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135164
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461626Hom.: 0 Cov.: 29 AF XY: 0.0000110 AC XY: 8AN XY: 727118
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.733G>A (p.A245T) 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 733, causing the alanine (A) at amino acid position 245 to be replaced by a threonine (T). 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