chr6-30198824-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_003449.5(TRIM26):c.280C>T(p.Arg94Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000732 in 1,612,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003449.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM26 | NM_003449.5 | c.280C>T | p.Arg94Trp | missense_variant | 4/10 | ENST00000454678.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM26 | ENST00000454678.7 | c.280C>T | p.Arg94Trp | missense_variant | 4/10 | 1 | NM_003449.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000329 AC: 50AN: 152022Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000934 AC: 23AN: 246216Hom.: 0 AF XY: 0.0000596 AC XY: 8AN XY: 134236
GnomAD4 exome AF: 0.0000459 AC: 67AN: 1460156Hom.: 0 Cov.: 33 AF XY: 0.0000441 AC XY: 32AN XY: 726410
GnomAD4 genome ? AF: 0.000335 AC: 51AN: 152140Hom.: 0 Cov.: 31 AF XY: 0.000376 AC XY: 28AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 09, 2023 | The c.280C>T (p.R94W) alteration is located in exon 4 (coding exon 1) of the TRIM26 gene. This alteration results from a C to T substitution at nucleotide position 280, causing the arginine (R) at amino acid position 94 to be replaced by a tryptophan (W). 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