chr20-396317-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_021158.5(TRIB3):c.704C>T(p.Ala235Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,613,670 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021158.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIB3 | NM_021158.5 | c.704C>T | p.Ala235Val | missense_variant | 4/4 | ENST00000217233.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIB3 | ENST00000217233.9 | c.704C>T | p.Ala235Val | missense_variant | 4/4 | 1 | NM_021158.5 | P1 | |
TRIB3 | ENST00000422053.3 | c.785C>T | p.Ala262Val | missense_variant | 5/5 | 2 | |||
TRIB3 | ENST00000449710.5 | c.704C>T | p.Ala235Val | missense_variant | 4/4 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000591 AC: 9AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250892Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135732
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461436Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727046
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152234Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 19, 2022 | The c.704C>T (p.A235V) alteration is located in exon 4 (coding exon 3) of the TRIB3 gene. This alteration results from a C to T substitution at nucleotide position 704, causing the alanine (A) at amino acid position 235 to be replaced by a valine (V). 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