1-114407078-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015906.4(TRIM33):c.2281G>A(p.Ala761Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,222 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_015906.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM33 | ENST00000358465.7 | c.2281G>A | p.Ala761Thr | missense_variant | Exon 14 of 20 | 1 | NM_015906.4 | ENSP00000351250.2 | ||
TRIM33 | ENST00000369543.6 | c.2281G>A | p.Ala761Thr | missense_variant | Exon 14 of 19 | 1 | ENSP00000358556.2 | |||
TRIM33 | ENST00000448034.5 | c.1561G>A | p.Ala521Thr | missense_variant | Exon 12 of 18 | 5 | ENSP00000402333.1 | |||
TRIM33 | ENST00000476908.1 | n.-111G>A | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250818Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135580
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461222Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726922
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2281G>A (p.A761T) alteration is located in exon 14 (coding exon 14) of the TRIM33 gene. This alteration results from a G to A substitution at nucleotide position 2281, causing the alanine (A) at amino acid position 761 to be replaced by a threonine (T). 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