20-45375136-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014477.3(TP53TG5):c.671G>A(p.Arg224Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,828 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TP53TG5 | NM_014477.3 | c.671G>A | p.Arg224Lys | missense_variant | Exon 4 of 5 | ENST00000372726.5 | NP_055292.1 | |
TP53TG5 | XM_011528790.3 | c.623G>A | p.Arg208Lys | missense_variant | Exon 4 of 5 | XP_011527092.1 | ||
SYS1 | NM_001099791.3 | c.*842C>T | 3_prime_UTR_variant | Exon 4 of 4 | NP_001093261.1 | |||
SYS1-DBNDD2 | NR_003189.2 | n.380+9450C>T | intron_variant | Intron 3 of 5 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251348Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135882
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461828Hom.: 0 Cov.: 29 AF XY: 0.00000688 AC XY: 5AN XY: 727222
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.671G>A (p.R224K) 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 671, causing the arginine (R) at amino acid position 224 to be replaced by a lysine (K). 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