rs1056048
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001366285.2(TBXT):c.363C>T(p.Ser121Ser) variant causes a synonymous change. The variant allele was found at a frequency of 0.212 in 1,613,756 control chromosomes in the GnomAD database, including 38,437 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001366285.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBXT | NM_001366285.2 | c.363C>T | p.Ser121Ser | synonymous_variant | Exon 2 of 8 | ENST00000366876.7 | NP_001353214.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBXT | ENST00000366876.7 | c.363C>T | p.Ser121Ser | synonymous_variant | Exon 2 of 8 | 1 | NM_001366285.2 | ENSP00000355841.3 | ||
TBXT | ENST00000366871.7 | c.363C>T | p.Ser121Ser | synonymous_variant | Exon 3 of 8 | 1 | ENSP00000355836.3 | |||
TBXT | ENST00000296946.6 | c.363C>T | p.Ser121Ser | synonymous_variant | Exon 3 of 9 | 5 | ENSP00000296946.2 | |||
TBXT | ENST00000461348.2 | c.363C>T | p.Ser121Ser | synonymous_variant | Exon 3 of 6 | 5 | ENSP00000453512.1 |
Frequencies
GnomAD3 genomes AF: 0.246 AC: 37469AN: 152056Hom.: 5152 Cov.: 33
GnomAD3 exomes AF: 0.209 AC: 52338AN: 250998Hom.: 6082 AF XY: 0.204 AC XY: 27761AN XY: 135760
GnomAD4 exome AF: 0.208 AC: 304206AN: 1461582Hom.: 33268 Cov.: 39 AF XY: 0.206 AC XY: 150140AN XY: 727118
GnomAD4 genome AF: 0.247 AC: 37540AN: 152174Hom.: 5169 Cov.: 33 AF XY: 0.241 AC XY: 17906AN XY: 74406
ClinVar
Submissions by phenotype
not provided Benign:1
- -
TBXT-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at