rs4434604
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_184085.2(TRIM55):āc.987A>Gā(p.Glu329=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00422 in 1,580,754 control chromosomes in the GnomAD database, including 217 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_184085.2 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM55 | NM_184085.2 | c.987A>G | p.Glu329= | splice_region_variant, synonymous_variant | 8/10 | ENST00000315962.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM55 | ENST00000315962.9 | c.987A>G | p.Glu329= | splice_region_variant, synonymous_variant | 8/10 | 1 | NM_184085.2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.00640 AC: 974AN: 152158Hom.: 37 Cov.: 32
GnomAD3 exomes AF: 0.0133 AC: 2655AN: 199684Hom.: 81 AF XY: 0.0117 AC XY: 1248AN XY: 106990
GnomAD4 exome AF: 0.00399 AC: 5697AN: 1428478Hom.: 178 Cov.: 30 AF XY: 0.00384 AC XY: 2720AN XY: 707708
GnomAD4 genome AF: 0.00640 AC: 975AN: 152276Hom.: 39 Cov.: 32 AF XY: 0.00736 AC XY: 548AN XY: 74464
ClinVar
Submissions by phenotype
TRIM55-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 24, 2019 | 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