rs368576592
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_187841.3(TRIM54):āc.709C>Gā(p.Arg237Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,612,890 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.
Frequency
Consequence
NM_187841.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM54 | ENST00000380075.7 | c.709C>G | p.Arg237Gly | missense_variant | Exon 5 of 9 | 1 | NM_187841.3 | ENSP00000369415.3 | ||
TRIM54 | ENST00000296098.4 | c.835C>G | p.Arg279Gly | missense_variant | Exon 6 of 10 | 1 | ENSP00000296098.4 | |||
TRIM54 | ENST00000485306.1 | n.499C>G | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
TRIM54 | ENST00000488321.1 | n.464C>G | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247662Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134156
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1460718Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 726622
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at