4-26673803-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018317.4(TBC1D19):c.731C>T(p.Ala244Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000621 in 1,611,420 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_018317.4 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: 0.0000197 AC: 3AN: 151954Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250084Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135190
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459466Hom.: 0 Cov.: 29 AF XY: 0.00000413 AC XY: 3AN XY: 726074
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151954Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74198
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.731C>T (p.A244V) alteration is located in exon 11 (coding exon 11) of the TBC1D19 gene. This alteration results from a C to T substitution at nucleotide position 731, causing the alanine (A) at amino acid position 244 to be replaced by a valine (V). 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