11-89798344-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020358.2(TRIM49):c.1145G>A(p.Cys382Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000953 in 1,573,898 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020358.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRIM49 | NM_020358.2 | c.1145G>A | p.Cys382Tyr | missense_variant | Exon 8 of 8 | ENST00000329758.5 | NP_065091.1 | |
TRIM49 | XM_017018027.3 | c.914G>A | p.Cys305Tyr | missense_variant | Exon 5 of 5 | XP_016873516.1 | ||
TRIM49 | XM_024448617.2 | c.738+3358G>A | intron_variant | Intron 3 of 5 | XP_024304385.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000494 AC: 7AN: 141586Hom.: 0 Cov.: 19
GnomAD3 exomes AF: 0.00000823 AC: 2AN: 243088Hom.: 0 AF XY: 0.00000759 AC XY: 1AN XY: 131828
GnomAD4 exome AF: 0.00000559 AC: 8AN: 1432210Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 712832
GnomAD4 genome AF: 0.0000494 AC: 7AN: 141688Hom.: 0 Cov.: 19 AF XY: 0.0000290 AC XY: 2AN XY: 68868
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1145G>A (p.C382Y) alteration is located in exon 8 (coding exon 6) of the TRIM49 gene. This alteration results from a G to A substitution at nucleotide position 1145, causing the cysteine (C) at amino acid position 382 to be replaced by a tyrosine (Y). 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