11-67404306-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.104G>A(p.Arg35His) variant causes a missense change. The variant allele was found at a frequency of 0.00000313 in 1,599,138 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.104G>A | p.Arg35His | missense_variant | Exon 1 of 9 | ENST00000542590.2 | NP_001356425.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152096Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000823 AC: 2AN: 242976Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132926
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1446924Hom.: 0 Cov.: 31 AF XY: 0.00000279 AC XY: 2AN XY: 717448
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.104G>A (p.R35H) 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 104, causing the arginine (R) at amino acid position 35 to be replaced by a histidine (H). 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