rs773568096
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_181486.4(TBX5):āc.1208G>Cā(p.Ser403Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,380 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. 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. S403N) has been classified as Uncertain significance.
Frequency
Consequence
NM_181486.4 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 |
---|---|---|---|---|---|---|---|
TBX5 | NM_181486.4 | c.1208G>C | p.Ser403Thr | missense_variant | 9/9 | ENST00000405440.7 | |
TBX5 | NM_000192.3 | c.1208G>C | p.Ser403Thr | missense_variant | 9/9 | ||
TBX5 | NM_080717.4 | c.1058G>C | p.Ser353Thr | missense_variant | 8/8 | ||
TBX5 | XM_017019912.2 | c.1256G>C | p.Ser419Thr | missense_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBX5 | ENST00000405440.7 | c.1208G>C | p.Ser403Thr | missense_variant | 9/9 | 1 | NM_181486.4 | P1 | |
TBX5 | ENST00000310346.8 | c.1208G>C | p.Ser403Thr | missense_variant | 9/9 | 1 | P1 | ||
TBX5 | ENST00000349716.9 | c.1058G>C | p.Ser353Thr | missense_variant | 8/8 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250876Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135648
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461380Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727026
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at