chr8-66128314-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_184085.2(TRIM55):c.179C>T(p.Pro60Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000312 in 1,604,182 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM55 | ENST00000315962.9 | c.179C>T | p.Pro60Leu | missense_variant | Exon 2 of 10 | 1 | NM_184085.2 | ENSP00000323913.4 | ||
TRIM55 | ENST00000276573.11 | c.179C>T | p.Pro60Leu | missense_variant | Exon 2 of 11 | 1 | ENSP00000276573.7 | |||
TRIM55 | ENST00000353317.9 | c.179C>T | p.Pro60Leu | missense_variant | Exon 2 of 9 | 1 | ENSP00000297348.8 | |||
TRIM55 | ENST00000350034.4 | c.179C>T | p.Pro60Leu | missense_variant | Exon 2 of 5 | 1 | ENSP00000332302.4 |
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000148 AC: 36AN: 243708Hom.: 0 AF XY: 0.000136 AC XY: 18AN XY: 132044
GnomAD4 exome AF: 0.000324 AC: 471AN: 1451870Hom.: 0 Cov.: 30 AF XY: 0.000309 AC XY: 223AN XY: 721778
GnomAD4 genome AF: 0.000190 AC: 29AN: 152312Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.179C>T (p.P60L) alteration is located in exon 2 (coding exon 2) of the TRIM55 gene. This alteration results from a C to T substitution at nucleotide position 179, causing the proline (P) at amino acid position 60 to be replaced by a leucine (L). 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