6-30171853-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_033229.3(TRIM15):c.902A>G(p.Gln301Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000283 in 1,578,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM15 | NM_033229.3 | c.902A>G | p.Gln301Arg | missense_variant | 7/7 | ENST00000376694.9 | |
TRIM15 | XM_011514987.2 | c.587A>G | p.Gln196Arg | missense_variant | 8/8 | ||
TRIM15 | XM_011514988.3 | c.281A>G | p.Gln94Arg | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM15 | ENST00000376694.9 | c.902A>G | p.Gln301Arg | missense_variant | 7/7 | 1 | NM_033229.3 | P1 | |
TRIM15 | ENST00000433744.1 | c.391-2A>G | splice_acceptor_variant | 3 | |||||
TRIM15 | ENST00000619857.4 | c.695A>G | p.Gln232Arg | missense_variant | 8/8 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.000177 AC: 27AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000133 AC: 27AN: 202570Hom.: 0 AF XY: 0.000154 AC XY: 17AN XY: 110666
GnomAD4 exome AF: 0.000294 AC: 419AN: 1426174Hom.: 0 Cov.: 31 AF XY: 0.000256 AC XY: 181AN XY: 705748
GnomAD4 genome ? AF: 0.000177 AC: 27AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.902A>G (p.Q301R) alteration is located in exon 7 (coding exon 7) of the TRIM15 gene. This alteration results from a A to G substitution at nucleotide position 902, causing the glutamine (Q) at amino acid position 301 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