chr1-114427278-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_015906.4(TRIM33):c.1319G>A(p.Arg440His) variant causes a missense change. The variant allele was found at a frequency of 0.00000889 in 1,574,710 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 (★).
Frequency
Consequence
NM_015906.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM33 | ENST00000358465.7 | c.1319G>A | p.Arg440His | missense_variant | Exon 8 of 20 | 1 | NM_015906.4 | ENSP00000351250.2 | ||
TRIM33 | ENST00000369543.6 | c.1319G>A | p.Arg440His | missense_variant | Exon 8 of 19 | 1 | ENSP00000358556.2 | |||
TRIM33 | ENST00000448034.5 | c.527G>A | p.Arg176His | missense_variant | Exon 5 of 18 | 5 | ENSP00000402333.1 |
Frequencies
GnomAD3 genomes AF: 0.00000662 AC: 1AN: 151142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238290Hom.: 0 AF XY: 0.0000155 AC XY: 2AN XY: 128710
GnomAD4 exome AF: 0.00000913 AC: 13AN: 1423568Hom.: 0 Cov.: 25 AF XY: 0.00000990 AC XY: 7AN XY: 706812
GnomAD4 genome AF: 0.00000662 AC: 1AN: 151142Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73680
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1319G>A (p.R440H) alteration is located in exon 8 (coding exon 8) of the TRIM33 gene. This alteration results from a G to A substitution at nucleotide position 1319, causing the arginine (R) at amino acid position 440 to be replaced by a histidine (H). 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