rs2305089
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001366285.2(TBXT):c.530G>T(p.Gly177Val) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G177D) has been classified as Benign.
Frequency
Consequence
NM_001366285.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBXT | NM_001366285.2 | c.530G>T | p.Gly177Val | missense_variant | 3/8 | ENST00000366876.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBXT | ENST00000366876.7 | c.530G>T | p.Gly177Val | missense_variant | 3/8 | 1 | NM_001366285.2 | P4 | |
TBXT | ENST00000366871.7 | c.530G>T | p.Gly177Val | missense_variant | 4/8 | 1 | |||
TBXT | ENST00000296946.6 | c.530G>T | p.Gly177Val | missense_variant | 4/9 | 5 | A1 | ||
TBXT | ENST00000461348.2 | c.530G>T | p.Gly177Val | missense_variant | 4/6 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000205 AC: 3AN: 1461870Hom.: 0 Cov.: 54 AF XY: 0.00000138 AC XY: 1AN XY: 727234
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.