17-47699430-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394755.1(TBKBP1):c.745C>A(p.Gln249Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000319 in 1,567,356 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_001394755.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TBKBP1 | NM_001394755.1 | c.745C>A | p.Gln249Lys | missense_variant | Exon 6 of 10 | ENST00000578982.6 | NP_001381684.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBKBP1 | ENST00000578982.6 | c.745C>A | p.Gln249Lys | missense_variant | Exon 6 of 10 | 3 | NM_001394755.1 | ENSP00000462339.2 | ||
TBKBP1 | ENST00000361722.7 | c.745C>A | p.Gln249Lys | missense_variant | Exon 5 of 9 | 1 | ENSP00000354777.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000283 AC: 4AN: 1415122Hom.: 0 Cov.: 32 AF XY: 0.00000143 AC XY: 1AN XY: 701310
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152234Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.745C>A (p.Q249K) alteration is located in exon 5 (coding exon 5) of the TBKBP1 gene. This alteration results from a C to A substitution at nucleotide position 745, causing the glutamine (Q) at amino acid position 249 to be replaced by a lysine (K). 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