chr8-27820643-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018492.4(PBK):c.517G>A(p.Val173Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,566,924 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_018492.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PBK | NM_018492.4 | c.517G>A | p.Val173Ile | missense_variant | Exon 6 of 8 | ENST00000301905.9 | NP_060962.2 | |
PBK | NM_001278945.2 | c.517G>A | p.Val173Ile | missense_variant | Exon 6 of 8 | NP_001265874.1 | ||
PBK | NM_001363040.2 | c.517G>A | p.Val173Ile | missense_variant | Exon 6 of 8 | NP_001349969.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152058Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000363 AC: 9AN: 247628Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133904
GnomAD4 exome AF: 0.0000205 AC: 29AN: 1414866Hom.: 0 Cov.: 23 AF XY: 0.0000241 AC XY: 17AN XY: 706546
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152058Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.517G>A (p.V173I) alteration is located in exon 6 (coding exon 5) of the PBK gene. This alteration results from a G to A substitution at nucleotide position 517, causing the valine (V) at amino acid position 173 to be replaced by an isoleucine (I). 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