12-71897912-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001146213.3(TBC1D15):c.1154C>T(p.Ser385Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,612,318 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_001146213.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151916Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 250798Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135598
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1460284Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 726522
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152034Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1205C>T (p.S402L) alteration is located in exon 11 (coding exon 11) of the TBC1D15 gene. This alteration results from a C to T substitution at nucleotide position 1205, causing the serine (S) at amino acid position 402 to be replaced by a leucine (L). 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