1-228401064-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145214.3(TRIM11):c.635G>A(p.Arg212Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,612,782 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R212W) has been classified as Uncertain significance.
Frequency
Consequence
NM_145214.3 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 |
---|---|---|---|---|---|---|---|---|
TRIM11 | NM_145214.3 | c.635G>A | p.Arg212Gln | missense_variant | Exon 3 of 6 | ENST00000284551.11 | NP_660215.1 | |
TRIM11 | XM_017002412.3 | c.632G>A | p.Arg211Gln | missense_variant | Exon 3 of 6 | XP_016857901.1 | ||
TRIM11 | XM_011544285.4 | c.504+1002G>A | intron_variant | Intron 2 of 4 | XP_011542587.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000366 AC: 9AN: 245716Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133818
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1460568Hom.: 0 Cov.: 32 AF XY: 0.0000358 AC XY: 26AN XY: 726644
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.635G>A (p.R212Q) alteration is located in exon 3 (coding exon 3) of the TRIM11 gene. This alteration results from a G to A substitution at nucleotide position 635, causing the arginine (R) at amino acid position 212 to be replaced by a glutamine (Q). 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