4-26673883-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018317.4(TBC1D19):c.811C>T(p.Pro271Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000107 in 1,582,956 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151702Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 237880Hom.: 0 AF XY: 0.0000233 AC XY: 3AN XY: 128750
GnomAD4 exome AF: 0.0000112 AC: 16AN: 1431254Hom.: 0 Cov.: 26 AF XY: 0.0000169 AC XY: 12AN XY: 711190
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151702Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74048
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.811C>T (p.P271S) 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 811, causing the proline (P) at amino acid position 271 to be replaced by a serine (S). 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