11-67404275-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001369496.1(TBC1D10C):c.73G>A(p.Asp25Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000081 in 1,604,354 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBC1D10C | NM_001369496.1 | c.73G>A | p.Asp25Asn | missense_variant | Exon 1 of 9 | ENST00000542590.2 | NP_001356425.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152114Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000816 AC: 2AN: 245164Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133774
GnomAD4 exome AF: 0.00000826 AC: 12AN: 1452240Hom.: 0 Cov.: 31 AF XY: 0.00000555 AC XY: 4AN XY: 720816
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152114Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.73G>A (p.D25N) 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 73, causing the aspartic acid (D) at amino acid position 25 to be replaced by an asparagine (N). 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