chr1-228409210-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016102.4(TRIM17):c.845G>C(p.Arg282Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000123 in 1,613,968 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R282G) has been classified as Uncertain significance.
Frequency
Consequence
NM_016102.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM17 | NM_016102.4 | c.845G>C | p.Arg282Thr | missense_variant | Exon 6 of 7 | ENST00000366698.7 | NP_057186.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152100Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251452Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135904
GnomAD4 exome AF: 0.000131 AC: 191AN: 1461868Hom.: 1 Cov.: 31 AF XY: 0.000116 AC XY: 84AN XY: 727244
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152100Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.845G>C (p.R282T) alteration is located in exon 6 (coding exon 5) of the TRIM17 gene. This alteration results from a G to C substitution at nucleotide position 845, causing the arginine (R) at amino acid position 282 to be replaced by a threonine (T). 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