rs205498
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005082.5(TRIM25):c.1073C>T(p.Pro358Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.742 in 1,613,540 control chromosomes in the GnomAD database, including 445,607 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005082.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM25 | NM_005082.5 | c.1073C>T | p.Pro358Leu | missense_variant | 4/9 | ENST00000316881.9 | NP_005073.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM25 | ENST00000316881.9 | c.1073C>T | p.Pro358Leu | missense_variant | 4/9 | 1 | NM_005082.5 | ENSP00000323889.4 |
Frequencies
GnomAD3 genomes AF: 0.767 AC: 116423AN: 151884Hom.: 44868 Cov.: 30
GnomAD3 exomes AF: 0.750 AC: 188477AN: 251142Hom.: 70930 AF XY: 0.749 AC XY: 101677AN XY: 135714
GnomAD4 exome AF: 0.740 AC: 1081518AN: 1461538Hom.: 400725 Cov.: 61 AF XY: 0.740 AC XY: 537932AN XY: 727078
GnomAD4 genome AF: 0.766 AC: 116478AN: 152002Hom.: 44882 Cov.: 30 AF XY: 0.767 AC XY: 56957AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at