chr14-51025336-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001387360.1(TRIM9):c.847G>A(p.Gly283Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000496 in 1,614,128 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G283A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001387360.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM9 | NM_001387360.1 | c.847G>A | p.Gly283Arg | missense_variant | 2/13 | ENST00000684578.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM9 | ENST00000684578.1 | c.847G>A | p.Gly283Arg | missense_variant | 2/13 | NM_001387360.1 | |||
ENST00000669299.1 | n.198C>T | non_coding_transcript_exon_variant | 2/3 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251234Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135790
GnomAD4 exome AF: 0.0000465 AC: 68AN: 1461880Hom.: 0 Cov.: 33 AF XY: 0.0000523 AC XY: 38AN XY: 727240
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.847G>A (p.G283R) alteration is located in exon 2 (coding exon 2) of the TRIM9 gene. This alteration results from a G to A substitution at nucleotide position 847, causing the glycine (G) at amino acid position 283 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