7-101087796-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_030961.3(TRIM56):āc.484C>Gā(p.Arg162Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,454,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R162W) has been classified 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 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TRIM56 | ENST00000306085.11 | c.484C>G | p.Arg162Gly | missense_variant | Exon 3 of 3 | 1 | NM_030961.3 | ENSP00000305161.6 | ||
TRIM56 | ENST00000412507.1 | c.484C>G | p.Arg162Gly | missense_variant | Exon 3 of 4 | 1 | ENSP00000404186.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1454040Hom.: 0 Cov.: 29 AF XY: 0.00000277 AC XY: 2AN XY: 723186
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.