NM_001388022.1:c.3728A>G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001388022.1(TRIM66):c.3728A>G(p.His1243Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000357 in 1,399,452 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
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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 |
---|---|---|---|---|---|---|---|---|
TRIM66 | NM_001388022.1 | c.3728A>G | p.His1243Arg | missense_variant | Exon 22 of 25 | ENST00000646038.2 | NP_001374951.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM66 | ENST00000646038.2 | c.3728A>G | p.His1243Arg | missense_variant | Exon 22 of 25 | NM_001388022.1 | ENSP00000495413.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000357 AC: 5AN: 1399452Hom.: 0 Cov.: 32 AF XY: 0.00000580 AC XY: 4AN XY: 690240
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3200A>G (p.H1067R) alteration is located in exon 17 (coding exon 16) of the TRIM66 gene. This alteration results from a A to G substitution at nucleotide position 3200, causing the histidine (H) at amino acid position 1067 to be replaced by an arginine (R). 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