rs3744447
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP7
The NM_001321120.2(TBX4):c.276T>C(p.Ala92=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,050 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. A92A) has been classified as Benign.
Frequency
Consequence
NM_001321120.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBX4 | NM_001321120.2 | c.276T>C | p.Ala92= | synonymous_variant | 3/9 | ENST00000644296.1 | |
LOC124904042 | XR_007065872.1 | n.1077A>G | non_coding_transcript_exon_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBX4 | ENST00000644296.1 | c.276T>C | p.Ala92= | synonymous_variant | 3/9 | NM_001321120.2 | A1 | ||
TBX4 | ENST00000240335.1 | c.276T>C | p.Ala92= | synonymous_variant | 2/8 | 1 | P4 | ||
TBX4 | ENST00000642491.1 | c.276T>C | p.Ala92= | synonymous_variant | 2/8 | A1 | |||
TBX4 | ENST00000589003.5 | c.18T>C | p.Ala6= | synonymous_variant | 3/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151560Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461490Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727032
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151560Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73996
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at