rs72646968
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001379200.1(TBX1):c.1428C>G(p.Ala476=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A476A) has been classified as Likely benign.
Frequency
Consequence
NM_001379200.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBX1 | NM_001379200.1 | c.1428C>G | p.Ala476= | synonymous_variant | 7/7 | ENST00000649276.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBX1 | ENST00000649276.2 | c.1428C>G | p.Ala476= | synonymous_variant | 7/7 | NM_001379200.1 | A2 | ||
TBX1 | ENST00000332710.8 | c.1401C>G | p.Ala467= | synonymous_variant | 9/9 | 1 | P2 | ||
TBX1 | ENST00000329705.11 | c.1009+778C>G | intron_variant | 1 | A2 | ||||
TBX1 | ENST00000359500.7 | c.1009+778C>G | intron_variant | 1 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at