chr4-164969690-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001012414.3(TRIM61):c.313A>C(p.Thr105Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 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.313A>C | p.Thr105Pro | missense_variant | 3/3 | ENST00000710271.1 | |
TRIM61 | NM_001012414.3 | c.313A>C | p.Thr105Pro | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIM61 | ENST00000710271.1 | c.313A>C | p.Thr105Pro | missense_variant | 3/3 | NM_001414904.1 | P1 | ||
TRIM61 | ENST00000329314.6 | c.313A>C | p.Thr105Pro | missense_variant | 3/5 | 1 | |||
TRIM61 | ENST00000508856.2 | c.313A>C | p.Thr105Pro | missense_variant | 3/3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000140 AC: 2AN: 1433302Hom.: 0 Cov.: 28 AF XY: 0.00000140 AC XY: 1AN XY: 714464
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.313A>C (p.T105P) alteration is located in exon 3 (coding exon 1) of the TRIM61 gene. This alteration results from a A to C substitution at nucleotide position 313, causing the threonine (T) at amino acid position 105 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.