4-164969521-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001012414.3(TRIM61):c.482T>A(p.Val161Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000663 in 150,926 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_001012414.3 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 |
---|---|---|---|---|---|---|---|
TRIM61 | NM_001414904.1 | c.482T>A | p.Val161Asp | missense_variant | 3/3 | ENST00000710271.1 | |
TRIM61 | NM_001012414.3 | c.482T>A | p.Val161Asp | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM61 | ENST00000710271.1 | c.482T>A | p.Val161Asp | missense_variant | 3/3 | NM_001414904.1 | P1 | ||
TRIM61 | ENST00000329314.6 | c.482T>A | p.Val161Asp | missense_variant | 3/5 | 1 | |||
TRIM61 | ENST00000508856.2 | c.482T>A | p.Val161Asp | missense_variant | 3/3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000663 AC: 1AN: 150926Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000106 AC: 2AN: 188538Hom.: 0 AF XY: 0.00000995 AC XY: 1AN XY: 100482
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000640 AC: 9AN: 1405494Hom.: 0 Cov.: 26 AF XY: 0.00000573 AC XY: 4AN XY: 697716
GnomAD4 genome ? AF: 0.00000663 AC: 1AN: 150926Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73614
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2022 | The c.482T>A (p.V161D) alteration is located in exon 3 (coding exon 1) of the TRIM61 gene. This alteration results from a T to A substitution at nucleotide position 482, causing the valine (V) at amino acid position 161 to be replaced by an aspartic acid (D). 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