11-67404275-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001369496.1(TBC1D10C):c.73G>T(p.Asp25Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000137 in 1,604,356 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBC1D10C | NM_001369496.1 | c.73G>T | p.Asp25Tyr | missense_variant | Exon 1 of 9 | ENST00000542590.2 | NP_001356425.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152114Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 245164Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133774
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1452242Hom.: 0 Cov.: 31 AF XY: 0.00000832 AC XY: 6AN XY: 720816
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152114Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.73G>T (p.D25Y) alteration is located in exon 2 (coding exon 1) of the TBC1D10C gene. This alteration results from a G to T substitution at nucleotide position 73, causing the aspartic acid (D) at amino acid position 25 to be replaced by a tyrosine (Y). 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