chr11-8619483-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001388022.1(TRIM66):c.3800G>A(p.Arg1267Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000903 in 1,551,126 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_001388022.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM66 | NM_001388022.1 | c.3800G>A | p.Arg1267Gln | missense_variant | Exon 23 of 25 | ENST00000646038.2 | NP_001374951.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM66 | ENST00000646038.2 | c.3800G>A | p.Arg1267Gln | missense_variant | Exon 23 of 25 | NM_001388022.1 | ENSP00000495413.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152120Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000128 AC: 2AN: 156200Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82734
GnomAD4 exome AF: 0.00000786 AC: 11AN: 1399006Hom.: 0 Cov.: 35 AF XY: 0.00000580 AC XY: 4AN XY: 690012
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152120Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3272G>A (p.R1091Q) alteration is located in exon 18 (coding exon 17) of the TRIM66 gene. This alteration results from a G to A substitution at nucleotide position 3272, causing the arginine (R) at amino acid position 1091 to be replaced by a glutamine (Q). 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