chr6-30172260-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_033229.3(TRIM15):c.1309A>G(p.Ile437Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,612,758 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM15 | NM_033229.3 | c.1309A>G | p.Ile437Val | missense_variant | 7/7 | ENST00000376694.9 | |
TRIM15 | XM_011514987.2 | c.994A>G | p.Ile332Val | missense_variant | 8/8 | ||
TRIM15 | XM_011514988.3 | c.688A>G | p.Ile230Val | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM15 | ENST00000376694.9 | c.1309A>G | p.Ile437Val | missense_variant | 7/7 | 1 | NM_033229.3 | P1 | |
TRIM15 | ENST00000619857.4 | c.1102A>G | p.Ile368Val | missense_variant | 8/8 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243732Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133368
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460524Hom.: 0 Cov.: 33 AF XY: 0.00000963 AC XY: 7AN XY: 726566
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 23, 2022 | The c.1309A>G (p.I437V) 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 1309, causing the isoleucine (I) at amino acid position 437 to be replaced by a valine (V). 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