chr8-125430960-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025195.4(TRIB1):c.58G>T(p.Ala20Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000618 in 1,473,096 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025195.4 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 |
---|---|---|---|---|---|---|---|
TRIB1 | NM_025195.4 | c.58G>T | p.Ala20Ser | missense_variant | 1/3 | ENST00000311922.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIB1 | ENST00000311922.4 | c.58G>T | p.Ala20Ser | missense_variant | 1/3 | 1 | NM_025195.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152180Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000849 AC: 6AN: 70702Hom.: 0 AF XY: 0.000122 AC XY: 5AN XY: 40908
GnomAD4 exome AF: 0.0000628 AC: 83AN: 1320916Hom.: 0 Cov.: 30 AF XY: 0.0000661 AC XY: 43AN XY: 650808
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152180Hom.: 0 Cov.: 34 AF XY: 0.0000538 AC XY: 4AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 17, 2023 | The c.58G>T (p.A20S) alteration is located in exon 1 (coding exon 1) of the TRIB1 gene. This alteration results from a G to T substitution at nucleotide position 58, causing the alanine (A) at amino acid position 20 to be replaced by a serine (S). 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