7-101088093-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030961.3(TRIM56):c.781G>T(p.Gly261Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000294 in 1,359,332 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_030961.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIM56 | NM_030961.3 | c.781G>T | p.Gly261Cys | missense_variant | 3/3 | ENST00000306085.11 | |
TRIM56 | XM_011516589.4 | c.781G>T | p.Gly261Cys | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM56 | ENST00000306085.11 | c.781G>T | p.Gly261Cys | missense_variant | 3/3 | 1 | NM_030961.3 | P1 | |
TRIM56 | ENST00000412507.1 | c.781G>T | p.Gly261Cys | missense_variant | 3/4 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000830 AC: 1AN: 120450Hom.: 0 AF XY: 0.0000155 AC XY: 1AN XY: 64406
GnomAD4 exome AF: 0.00000294 AC: 4AN: 1359332Hom.: 0 Cov.: 29 AF XY: 0.00000300 AC XY: 2AN XY: 666714
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 21, 2024 | The c.781G>T (p.G261C) alteration is located in exon 3 (coding exon 1) of the TRIM56 gene. This alteration results from a G to T substitution at nucleotide position 781, causing the glycine (G) at amino acid position 261 to be replaced by a cysteine (C). 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