rs115178276
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_181486.4(TBX5):c.836G>T(p.Arg279Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000205 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R279Q) has been classified as Likely benign.
Frequency
Consequence
NM_181486.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBX5 | NM_181486.4 | c.836G>T | p.Arg279Leu | missense_variant | 8/9 | ENST00000405440.7 | |
TBX5 | NM_000192.3 | c.836G>T | p.Arg279Leu | missense_variant | 8/9 | ||
TBX5 | NM_080717.4 | c.686G>T | p.Arg229Leu | missense_variant | 7/8 | ||
TBX5 | XM_017019912.2 | c.884G>T | p.Arg295Leu | missense_variant | 8/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBX5 | ENST00000405440.7 | c.836G>T | p.Arg279Leu | missense_variant | 8/9 | 1 | NM_181486.4 | P1 | |
TBX5 | ENST00000310346.8 | c.836G>T | p.Arg279Leu | missense_variant | 8/9 | 1 | P1 | ||
TBX5 | ENST00000349716.9 | c.686G>T | p.Arg229Leu | missense_variant | 7/8 | 1 | |||
TBX5 | ENST00000526441.1 | c.836G>T | p.Arg279Leu | missense_variant | 7/7 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461876Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727242
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at