2-27305683-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_187841.3(TRIM54):c.709C>T(p.Arg237Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000267 in 1,613,008 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_187841.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM54 | ENST00000380075.7 | c.709C>T | p.Arg237Trp | missense_variant | Exon 5 of 9 | 1 | NM_187841.3 | ENSP00000369415.3 | ||
TRIM54 | ENST00000296098.4 | c.835C>T | p.Arg279Trp | missense_variant | Exon 6 of 10 | 1 | ENSP00000296098.4 | |||
TRIM54 | ENST00000485306.1 | n.499C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
TRIM54 | ENST00000488321.1 | n.464C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000363 AC: 9AN: 247662Hom.: 0 AF XY: 0.0000373 AC XY: 5AN XY: 134156
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1460718Hom.: 1 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 726622
GnomAD4 genome AF: 0.000112 AC: 17AN: 152290Hom.: 1 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.835C>T (p.R279W) alteration is located in exon 6 (coding exon 6) of the TRIM54 gene. This alteration results from a C to T substitution at nucleotide position 835, causing the arginine (R) at amino acid position 279 to be replaced by a tryptophan (W). 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