8-27822449-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018492.4(PBK):c.335G>A(p.Cys112Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000144 in 1,611,146 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PBK | NM_018492.4 | c.335G>A | p.Cys112Tyr | missense_variant | Exon 5 of 8 | ENST00000301905.9 | NP_060962.2 | |
PBK | NM_001278945.2 | c.335G>A | p.Cys112Tyr | missense_variant | Exon 5 of 8 | NP_001265874.1 | ||
PBK | NM_001363040.2 | c.335G>A | p.Cys112Tyr | missense_variant | Exon 5 of 8 | NP_001349969.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PBK | ENST00000301905.9 | c.335G>A | p.Cys112Tyr | missense_variant | Exon 5 of 8 | 1 | NM_018492.4 | ENSP00000301905.4 | ||
PBK | ENST00000522944.5 | c.335G>A | p.Cys112Tyr | missense_variant | Exon 5 of 8 | 2 | ENSP00000428489.1 | |||
PBK | ENST00000521226.2 | c.233G>A | p.Cys78Tyr | missense_variant | Exon 5 of 6 | 3 | ENSP00000427892.2 | |||
PBK | ENST00000524266.1 | n.153-1755G>A | intron_variant | Intron 3 of 5 | 5 | ENSP00000428438.1 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249538Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134808
GnomAD4 exome AF: 0.000151 AC: 220AN: 1458982Hom.: 0 Cov.: 28 AF XY: 0.000153 AC XY: 111AN XY: 725766
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.335G>A (p.C112Y) alteration is located in exon 5 (coding exon 4) of the PBK gene. This alteration results from a G to A substitution at nucleotide position 335, causing the cysteine (C) at amino acid position 112 to be replaced by a tyrosine (Y). 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