2-12718486-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_ModerateBS2
The NM_021643.4(TRIB2):āc.179G>Cā(p.Cys60Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,894 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 (ā ).
Frequency
Consequence
NM_021643.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TRIB2 | NM_021643.4 | c.179G>C | p.Cys60Ser | missense_variant | 1/3 | ENST00000155926.9 | |
TRIB2 | NR_027303.2 | n.75+1476G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRIB2 | ENST00000155926.9 | c.179G>C | p.Cys60Ser | missense_variant | 1/3 | 1 | NM_021643.4 | P1 | |
TRIB2 | ENST00000405331.3 | c.179G>C | p.Cys60Ser | missense_variant | 1/3 | 2 | |||
TRIB2 | ENST00000381465.2 | c.-139+1476G>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2022 | The c.179G>C (p.C60S) alteration is located in exon 1 (coding exon 1) of the TRIB2 gene. This alteration results from a G to C substitution at nucleotide position 179, causing the cysteine (C) at amino acid position 60 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
Publications
No publications associated with this variant yet.