11-67404218-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001369496.1(TBC1D10C):c.16G>A(p.Gly6Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000495 in 1,414,302 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_001369496.1 missense
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.16G>A | p.Gly6Arg | missense_variant | Exon 1 of 9 | ENST00000542590.2 | NP_001356425.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000322 AC: 7AN: 217452Hom.: 0 AF XY: 0.0000331 AC XY: 4AN XY: 120678
GnomAD4 exome AF: 0.00000495 AC: 7AN: 1414302Hom.: 0 Cov.: 30 AF XY: 0.00000716 AC XY: 5AN XY: 698418
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.16G>A (p.G6R) alteration is located in exon 2 (coding exon 1) of the TBC1D10C gene. This alteration results from a G to A substitution at nucleotide position 16, causing the glycine (G) at amino acid position 6 to be replaced by an arginine (R). 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