NM_187841.3:c.81C>T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BS1BS2
The NM_187841.3(TRIM54):c.81C>T(p.Pro27Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000982 in 1,614,118 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_187841.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM54 | ENST00000380075.7 | c.81C>T | p.Pro27Pro | synonymous_variant | Exon 1 of 9 | 1 | NM_187841.3 | ENSP00000369415.3 | ||
TRIM54 | ENST00000296098.4 | c.81C>T | p.Pro27Pro | synonymous_variant | Exon 1 of 10 | 1 | ENSP00000296098.4 |
Frequencies
GnomAD3 genomes AF: 0.00505 AC: 768AN: 152222Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00138 AC: 346AN: 251232Hom.: 0 AF XY: 0.00108 AC XY: 147AN XY: 135790
GnomAD4 exome AF: 0.000558 AC: 815AN: 1461778Hom.: 6 Cov.: 30 AF XY: 0.000496 AC XY: 361AN XY: 727196
GnomAD4 genome AF: 0.00505 AC: 770AN: 152340Hom.: 4 Cov.: 32 AF XY: 0.00503 AC XY: 375AN XY: 74508
ClinVar
Submissions by phenotype
TRIM54-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at