rs61731477
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001199107.2(TBC1D24):āc.1196C>Gā(p.Thr399Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,613,540 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. T399M) has been classified as Likely benign.
Frequency
Consequence
NM_001199107.2 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBC1D24 | NM_001199107.2 | c.1196C>G | p.Thr399Arg | missense_variant | 5/8 | ENST00000646147.1 | NP_001186036.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBC1D24 | ENST00000646147.1 | c.1196C>G | p.Thr399Arg | missense_variant | 5/8 | NM_001199107.2 | ENSP00000494678 | A1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152118Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247302Hom.: 0 AF XY: 0.00000743 AC XY: 1AN XY: 134576
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461304Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726922
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at