rs1432218739
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PM5BP4
The ENST00000372114.4(TP53RK):c.242C>T(p.Thr81Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000956 in 1,360,176 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. T81R) has been classified as Pathogenic.
Frequency
Consequence
ENST00000372114.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TP53RK | NM_033550.4 | c.242C>T | p.Thr81Met | missense_variant | 1/2 | ENST00000372114.4 | NP_291028.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TP53RK | ENST00000372114.4 | c.242C>T | p.Thr81Met | missense_variant | 1/2 | 1 | NM_033550.4 | ENSP00000361186 | P1 | |
TP53RK | ENST00000372102.3 | c.242C>T | p.Thr81Met | missense_variant | 1/2 | 1 | ENSP00000361174 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000956 AC: 13AN: 1360176Hom.: 0 Cov.: 31 AF XY: 0.0000105 AC XY: 7AN XY: 669462
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at