6-30172215-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033229.3(TRIM15):c.1264G>A(p.Glu422Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000141 in 1,611,780 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033229.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM15 | NM_033229.3 | c.1264G>A | p.Glu422Lys | missense_variant | 7/7 | ENST00000376694.9 | |
TRIM15 | XM_011514987.2 | c.949G>A | p.Glu317Lys | missense_variant | 8/8 | ||
TRIM15 | XM_011514988.3 | c.643G>A | p.Glu215Lys | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM15 | ENST00000376694.9 | c.1264G>A | p.Glu422Lys | missense_variant | 7/7 | 1 | NM_033229.3 | P1 | |
TRIM15 | ENST00000619857.4 | c.1057G>A | p.Glu353Lys | missense_variant | 8/8 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152268Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000544 AC: 13AN: 238758Hom.: 0 AF XY: 0.0000305 AC XY: 4AN XY: 131090
GnomAD4 exome AF: 0.000147 AC: 214AN: 1459512Hom.: 1 Cov.: 33 AF XY: 0.000138 AC XY: 100AN XY: 726032
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152268Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 02, 2023 | The c.1264G>A (p.E422K) alteration is located in exon 7 (coding exon 7) of the TRIM15 gene. This alteration results from a G to A substitution at nucleotide position 1264, causing the glutamic acid (E) at amino acid position 422 to be replaced by a lysine (K). 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