NM_001348119.1:c.1094G>C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001348119.1(TRIM16):c.1094G>C(p.Arg365Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000737 in 1,613,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001348119.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM16 | NM_001348119.1 | c.1094G>C | p.Arg365Thr | missense_variant | Exon 11 of 12 | ENST00000649191.2 | NP_001335048.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM16 | ENST00000649191.2 | c.1094G>C | p.Arg365Thr | missense_variant | Exon 11 of 12 | NM_001348119.1 | ENSP00000497185.2 | |||
ENSG00000251537 | ENST00000455584.2 | c.1094G>C | p.Arg365Thr | missense_variant | Exon 5 of 17 | 2 | ENSP00000402644.2 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251168Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135736
GnomAD4 exome AF: 0.0000698 AC: 102AN: 1461660Hom.: 0 Cov.: 30 AF XY: 0.0000701 AC XY: 51AN XY: 727142
GnomAD4 genome AF: 0.000112 AC: 17AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1094G>C (p.R365T) alteration is located in exon 8 (coding exon 5) of the TRIM16 gene. This alteration results from a G to C substitution at nucleotide position 1094, causing the arginine (R) at amino acid position 365 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