chr5-181260021-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001346048.2(TRIM52):c.793G>A(p.Glu265Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000522 in 1,614,058 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_001346048.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM52 | NM_001346048.2 | c.793G>A | p.Glu265Lys | missense_variant | Exon 1 of 2 | ENST00000688015.1 | NP_001332977.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM52 | ENST00000688015.1 | c.793G>A | p.Glu265Lys | missense_variant | Exon 1 of 2 | NM_001346048.2 | ENSP00000508553.1 |
Frequencies
GnomAD3 genomes AF: 0.000256 AC: 39AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000243 AC: 61AN: 251394Hom.: 0 AF XY: 0.000272 AC XY: 37AN XY: 135900
GnomAD4 exome AF: 0.000549 AC: 803AN: 1461716Hom.: 0 Cov.: 33 AF XY: 0.000554 AC XY: 403AN XY: 727162
GnomAD4 genome AF: 0.000256 AC: 39AN: 152342Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.793G>A (p.E265K) alteration is located in exon 1 (coding exon 1) of the TRIM52 gene. This alteration results from a G to A substitution at nucleotide position 793, causing the glutamic acid (E) at amino acid position 265 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