11-67405119-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001369494.1(TBC1D10C):c.-113C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000309 in 1,551,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001369494.1 5_prime_UTR_premature_start_codon_gain
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBC1D10C | NM_001369496.1 | c.187C>T | p.Arg63Trp | missense_variant | Exon 2 of 9 | ENST00000542590.2 | NP_001356425.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000447 AC: 7AN: 156438Hom.: 0 AF XY: 0.0000608 AC XY: 5AN XY: 82290
GnomAD4 exome AF: 0.0000200 AC: 28AN: 1399090Hom.: 0 Cov.: 31 AF XY: 0.0000188 AC XY: 13AN XY: 690058
GnomAD4 genome AF: 0.000131 AC: 20AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.187C>T (p.R63W) alteration is located in exon 3 (coding exon 2) of the TBC1D10C gene. This alteration results from a C to T substitution at nucleotide position 187, causing the arginine (R) at amino acid position 63 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at