2-101007866-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001330348.2(TBC1D8):c.3423A>C(p.Glu1141Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,611,748 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330348.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TBC1D8 | NM_001330348.2 | c.3423A>C | p.Glu1141Asp | missense_variant | 20/20 | ENST00000409318.2 | |
TBC1D8 | NM_001102426.3 | c.3378A>C | p.Glu1126Asp | missense_variant | 20/20 | ||
RPL31 | NM_001098577.3 | c.346+1795T>G | intron_variant | ||||
TBC1D8 | NR_138475.2 | n.3389A>C | non_coding_transcript_exon_variant | 19/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TBC1D8 | ENST00000409318.2 | c.3423A>C | p.Glu1141Asp | missense_variant | 20/20 | 5 | NM_001330348.2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000133 AC: 2AN: 150092Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461656Hom.: 0 Cov.: 29 AF XY: 0.0000316 AC XY: 23AN XY: 727112
GnomAD4 genome ? AF: 0.0000133 AC: 2AN: 150092Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 23, 2021 | The c.3378A>C (p.E1126D) alteration is located in exon 20 (coding exon 20) of the TBC1D8 gene. This alteration results from a A to C substitution at nucleotide position 3378, causing the glutamic acid (E) at amino acid position 1126 to be replaced by an aspartic acid (D). 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