rs61760894
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_184085.2(TRIM55):c.179C>A(p.Pro60Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000276 in 1,451,870 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. P60L) has been classified as Uncertain significance.
Frequency
Consequence
NM_184085.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM55 | ENST00000315962.9 | c.179C>A | p.Pro60Gln | missense_variant | Exon 2 of 10 | 1 | NM_184085.2 | ENSP00000323913.4 | ||
TRIM55 | ENST00000276573.11 | c.179C>A | p.Pro60Gln | missense_variant | Exon 2 of 11 | 1 | ENSP00000276573.7 | |||
TRIM55 | ENST00000353317.9 | c.179C>A | p.Pro60Gln | missense_variant | Exon 2 of 9 | 1 | ENSP00000297348.8 | |||
TRIM55 | ENST00000350034.4 | c.179C>A | p.Pro60Gln | missense_variant | Exon 2 of 5 | 1 | ENSP00000332302.4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243708Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132044
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1451870Hom.: 0 Cov.: 30 AF XY: 0.00000277 AC XY: 2AN XY: 721778
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at