11-5611163-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001003818.3(TRIM6):c.1372C>T(p.Pro458Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000075 in 1,614,192 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001003818.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM6 | ENST00000380097.8 | c.1372C>T | p.Pro458Ser | missense_variant | Exon 8 of 8 | 1 | NM_001003818.3 | ENSP00000369440.3 | ||
TRIM6-TRIM34 | ENST00000354852.5 | c.985+602C>T | intron_variant | Intron 7 of 13 | 2 | ENSP00000346916.5 | ||||
ENSG00000239920 | ENST00000380259.7 | n.*421+15438G>A | intron_variant | Intron 3 of 7 | 5 | ENSP00000369609.3 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251484Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135918
GnomAD4 exome AF: 0.0000773 AC: 113AN: 1461892Hom.: 0 Cov.: 34 AF XY: 0.0000646 AC XY: 47AN XY: 727248
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152300Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1372C>T (p.P458S) alteration is located in exon 8 (coding exon 8) of the TRIM6 gene. This alteration results from a C to T substitution at nucleotide position 1372, causing the proline (P) at amino acid position 458 to be replaced by a serine (S). 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