rs45569335
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_005030.6(PLK1):c.1388T>A(p.Leu463His) variant causes a missense change. The variant allele was found at a frequency of 0.00963 in 1,612,956 control chromosomes in the GnomAD database, including 99 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005030.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLK1 | NM_005030.6 | c.1388T>A | p.Leu463His | missense_variant | 8/10 | ENST00000300093.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLK1 | ENST00000300093.9 | c.1388T>A | p.Leu463His | missense_variant | 8/10 | 1 | NM_005030.6 | P1 | |
PLK1 | ENST00000562272.5 | n.3408T>A | non_coding_transcript_exon_variant | 7/9 | 2 | ||||
PLK1 | ENST00000564794.1 | n.188T>A | non_coding_transcript_exon_variant | 2/4 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00649 AC: 987AN: 152152Hom.: 4 Cov.: 32
GnomAD3 exomes AF: 0.00609 AC: 1531AN: 251382Hom.: 14 AF XY: 0.00599 AC XY: 814AN XY: 135860
GnomAD4 exome AF: 0.00995 AC: 14540AN: 1460686Hom.: 95 Cov.: 32 AF XY: 0.00959 AC XY: 6968AN XY: 726390
GnomAD4 genome ? AF: 0.00648 AC: 987AN: 152270Hom.: 4 Cov.: 32 AF XY: 0.00600 AC XY: 447AN XY: 74452
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at